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Gene Symbol | AXL | ||||||||||
Synonyms | ARK | AXL3 | JTK11 | Tyro7 | UFO | ||||||||||
Gene Description | AXL, AXL receptor tyrosine kinase, is a receptor tyrosine kinase, which promotes growth, migration, and survival of tumor cells through activation of Mapk signaling (PMID: 28072762). Activation and overexpression of AXL has been associated with resistance to chemotherapeutic agents and targeted therapies (PMID: 28251492), in both solid and hematological tumors (PMID: 32148495). | ||||||||||
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Variant | Impact | Protein Effect | Variant Description | Associated with drug Resistance |
---|---|---|---|---|
A273P | missense | unknown | AXL A273P lies within fibronectin type-III domain 1 of the Axl protein (UniProt.org). A273P has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Jul 2024). | |
A273V | missense | unknown | AXL A273V lies within fibronectin type-III domain 1 of the Axl protein (UniProt.org). A273V has been associated with resistance to EGFR inhibitors (Cancer Res 2018;78(13 Suppl): nr 4903), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Jun 2024). | Y |
A674V | missense | unknown | AXL A674V lies within the protein kinase domain of the Axl protein (UniProt.org). A674V has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2024). | |
A857V | missense | no effect - predicted | AXL A857V does lies within the cytoplasmic domain of the Axl protein (UniProt.org). A857V has not been biochemically characterized, but results in cell proliferation and viability levels similar to wild-type Axl (PMID: 29533785), and therefore, is predicted to have no effect on Axl protein function. | |
act mut | unknown | gain of function | AXL act mut indicates that this variant results in a gain of function in the Axl protein. However, the specific amino acid change has not been identified. | |
amp | none | no effect | AXL amp indicates an increased number of copies of the AXL gene. However, the mechanism causing the increase is unspecified. | |
C117R | missense | unknown | AXL C117R lies within Ig-like C2-type domain 1 of the Axl protein (UniProt.org). C117R has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2024). | |
C311F | missense | unknown | AXL C311F lies within fibronectin type-III domain 1 of the Axl protein (UniProt.org). C311F induces similar cell proliferation and cell viability as wild-type Axl in one of two cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2024). | |
D382G | missense | unknown | AXL D382G lies within fibronectin type-III domain 2 of the Axl protein (UniProt.org). D382G has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2024). | |
E388D | missense | unknown | AXL E388D lies within fibronectin type-III domain 2 of the Axl protein (UniProt.org). E388D has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2024). | |
E524K | missense | unknown | AXL E524K lies within the cytoplasmic domain of the Axl protein (UniProt.org). E524K has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2024). | |
E818K | missense | unknown | AXL E818K lies within the cytoplasmic domain of the Axl protein (UniProt.org). E818K has been identified in the scientific literature (PMID: 25452114), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2024). | |
F631S | missense | unknown | AXL F631S lies within the protein kinase domain of the Axl protein (UniProt.org). F631S has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2024). | |
F652L | missense | unknown | AXL F652L lies within the protein kinase domain of the Axl protein (UniProt.org). F652L has been identified in sequencing studies (PMID: 36965901), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2024). | |
G331A | missense | unknown | AXL G331A lies within fibronectin type-III domain 1 of the Axl protein (UniProt.org). G331A has been identified in sequencing studies (PMID: 24121792), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2024). | |
G335fs | frameshift | loss of function - predicted | AXL G335fs results in a change in the amino acid sequence of the Axl protein beginning at aa 335 of 894, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), G335fs is predicted to lead to a loss of Axl protein function. | |
G413V | missense | loss of function - predicted | AXL G413V lies within fibronectin type-III domain 2 of the Axl protein (UniProt.org). G413V has not been biochemically characterized, but results in decreased cell proliferation and viability compared to wild-type Axl in culture (PMID: 29533785), and therefore, is predicted to lead to a loss of Axl protein function. | |
G413W | missense | unknown | AXL G413W lies within fibronectin type-III domain 2 of the Axl protein (UniProt.org). G413W has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2024). | |
G415A | missense | unknown | AXL G415A lies within fibronectin type-III domain 2 of the Axl protein (UniProt.org). G415A has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2024). | |
G46V | missense | unknown | AXL G46V lies within Ig-like C2-type domain 1 of the Axl protein (UniProt.org). G46V has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2024). | |
G517S | missense | unknown | AXL G517S lies within the cytoplasmic domain of the Axl protein (UniProt.org). G517S has been identified in sequencing studies (PMID: 18056464, PMID: 29681454), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2024). | |
G692R | missense | unknown | AXL G692R lies within the protein kinase domain of the Axl protein (UniProt.org). G692R has been identified in sequencing studies (PMID: 24265153), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2024). | |
G736R | missense | unknown | AXL G736R lies within the protein kinase domain of the Axl protein (UniProt.org). G736R has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2024). | |
G736W | missense | loss of function - predicted | AXL G736W lies within the protein kinase domain of the Axl protein (UniProt.org). G736W has not been biochemically characterized, but results in decreased cell proliferation and viability compared to wild-type Axl in culture (PMID: 29533785), and therefore, is predicted to lead to a loss of Axl protein function. | |
G73V | missense | unknown | AXL G73V lies within Ig-like C2-type domain 1 of the Axl protein (UniProt.org). G73V has been identified in sequencing studies (PMID: 26168399), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2024). | |
G89D | missense | unknown | AXL G89D lies within Ig-like C2-type domain 1 of the Axl protein (UniProt.org). G89D has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2024). | |
H670Q | missense | unknown | AXL H670Q lies within the protein kinase domain of the Axl protein (UniProt.org). H670Q has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2024). | |
I466L | missense | unknown | AXL I466L lies within the transmembrane domain of the Axl protein (UniProt.org). I466L has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2024). | |
I619V | missense | unknown | AXL I619V lies within the protein kinase domain of the Axl protein (UniProt.org). I619V has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2024). | |
I656N | missense | unknown | AXL I656N lies within the protein kinase domain of the Axl protein (UniProt.org). I656N has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2024). | |
I758M | missense | unknown | AXL I758M lies within the protein kinase domain of the Axl protein (UniProt.org). I758M has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2024). | |
inact mut | unknown | loss of function | AXL inact mut indicates that this variant results in a loss of function of the Axl protein. However, the specific amino acid change has not been identified. | |
K476T | missense | unknown | AXL K476T lies within the cytoplasmic domain of the Axl protein (UniProt.org). K476T has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2024). | |
K567M | missense | loss of function - predicted | AXL K567M lies within the protein kinase domain of the Axl protein (UniProt.org). K567M results in a loss of the ATP-binding site, and impaired binding to Plc gamma, P85, Grb2, C-src and Lck in an in vitro assay (PMID: 9178760), and therefore, is predicted to lead to a loss of Axl protein function. | |
K567R | missense | loss of function - predicted | AXL K567R lies within the ATP-binding site and protein kinase domain of the Axl protein (UniProt.org). K567R results in a loss of ubiquitination leading to increased Axl accumulation at the cell surface in culture (PMID: 31171001), and therefore, is predicted to lead to a loss of Axl protein function. | |
L423Q | missense | loss of function - predicted | AXL L423Q lies within fibronectin type-III domain 2 of the Axl protein (UniProt.org). L423Q has not been biochemically characterized, but results in decreased cell proliferation and viability compared to wild-type Axl in culture (PMID: 29533785), and therefore, is predicted to lead to a loss of Axl protein function. | |
L455I | missense | unknown | AXL L455I lies within the transmembrane domain of the Axl protein (UniProt.org). L455I has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2024). | |
L54F | missense | unknown | AXL L54F lies within Ig-like C2-type domain 1 of the Axl protein (UniProt.org). L54F has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2024). | |
L54I | missense | unknown | AXL L54I lies within Ig-like C2-type domain 1 of the Axl protein (UniProt.org). L54I has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2024). | |
L693P | missense | unknown | AXL L693P lies within the protein kinase domain of the Axl protein (UniProt.org). L693P has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2024). | |
L721P | missense | unknown | AXL L721P lies within the protein kinase domain of the Axl protein (UniProt.org). L721P has not been characterized and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2024). | |
M569I | missense | unknown | AXL M569I lies within the protein kinase domain of the Axl protein (UniProt.org). M569I has been identified in sequencing studies (PMID: 18056464), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2024). | |
M589K | missense | unknown | AXL M589K lies within the protein kinase domain of the Axl protein (UniProt.org). M589K has been identified in sequencing studies (PMID: 27573823), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2024). | |
mutant | unknown | unknown | AXL mutant indicates an unspecified mutation in the AXL gene. | |
N266D | missense | unknown | AXL N266D lies within fibronectin type-III domain 1 of the Axl protein (UniProt.org). N266D has been identified in sequencing studies (PMID: 25528188), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Jun 2024). | |
N43T | missense | unknown | AXL N43T lies within Ig-like C2-type domain 1 of the Axl protein (UniProt.org). N43T has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2024). | |
N677I | missense | unknown | AXL N677I lies within the protein kinase domain of the Axl protein (UniProt.org). N677I has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2024). | |
negative | unknown | loss of function | AXL negative indicates a lack of expression of the AXL mRNA and/or protein. | |
over exp | none | no effect | AXL over exp indicates an over expression of the Axl protein. However, the mechanism causing the over expression is unspecified. | |
P168S | missense | unknown | AXL P168S lies within Ig-like C2-type domain 2 of the Axl protein (UniProt.org). P168S has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2024). | |
P337Lfs*29 | frameshift | loss of function - predicted | AXL P337Lfs*29 indicates a shift in the reading frame starting at amino acid 337 and terminating 29 residues downstream causing a premature truncation of the 894 amino acid Axl protein (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), P337Lfs*29 is predicted to lead to a loss of Axl protein function. | |
P444S | missense | no effect - predicted | AXL P444S does not lie within any known functional domains of the Axl protein (UniProt.org). P444S has not been biochemically characterized, but results in similar cell proliferation and viability compared to wild-type Axl in culture (PMID: 29533785), and therefore, is predicted to have no effect on Axl protein function. | |
P595S | missense | unknown | AXL P595S lies within the protein kinase domain of the Axl protein (UniProt.org). P595S has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2024). | |
P645H | missense | unknown | AXL P645H lies within the protein kinase domain of the Axl protein (UniProt.org). P654H has been identified in sequencing studies (PMID: 21097718), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Jun 2024). | |
P64S | missense | unknown | AXL P64S lies within Ig-like C2-type domain 1 of the Axl protein (UniProt.org). P64S has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2024). | |
P811S | missense | unknown | AXL P811S lies within the cytoplasmic domain of the Axl protein (UniProt.org). P811S has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2024). | |
positive | unknown | unknown | AXL positive indicates the presence of the AXL gene, mRNA, and/or protein. | |
Q59H | missense | unknown | AXL Q59H lies within Ig-like C2-type domain 1 of the Axl protein (UniProt.org). Q59H has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2024). | |
Q764R | missense | unknown | AXL Q764R lies within the protein kinase domain of the Axl protein (UniProt.org). Q764R has been identified in the scientific literature (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2024). | |
Q83R | missense | unknown | AXL Q83R lies within Ig-like C2-type domain 1 of the Axl protein (UniProt.org). Q83R induces cell proliferation and cell viability similar to wild-type Axl in one of two cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2024). | |
R217H | missense | unknown | AXL R217H lies within Ig-like C2-type domain 2 of the Axl protein (UniProt.org). R217H has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Aug 2024). | |
R229C | missense | unknown | AXL R229C lies within fibronectin type-III domain 1 of the Axl protein (UniProt.org). R229C has been identified in sequencing studies (PMID: 35739269), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Jun 2024). | |
R295W | missense | unknown | AXL R295W lies within fibronectin type-III domain 1 of the Axl protein (UniProt.org). R295W has been identified in sequencing studies (PMID: 27592799, PMID: 16140923), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Sep 2024). | |
R308C | missense | unknown | AXL R308C lies within fibronectin type-III domain 1 of the Axl protein (UniProt.org). R308C has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Sep 2024). | |
R357W | missense | unknown | AXL R357W lies within fibronectin type-III domain 2 of the Axl protein (UniProt.org). R357W has been identified in sequencing studies (PMID: 27507618), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Sep 2024). | |
R368Q | missense | unknown | AXL R368Q lies within fibronectin type-III domain 2 of the Axl protein (UniProt.org). R368Q has been identified in sequencing studies (PMID: 22722839, PMID: 34465320), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Mar 2024). | |
R368W | missense | unknown | AXL R368W lies within fibronectin type-III domain 2 of the Axl protein (UniProt.org). R368W has been identified in sequencing studies (PMID: 25922291), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Mar 2024). | |
R427C | missense | unknown | AXL R427C lies within fibronectin type-III domain 2 of the Axl protein (UniProt.org). R427C has been identified in sequencing studies (PMID: 26000489), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Mar 2024). | |
R475Q | missense | unknown | AXL R475Q lies within the cytoplasmic domain of the Axl protein (UniProt.org). R475Q has been identified in sequencing studies (PMID: 32997802), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Mar 2024). | |
R48W | missense | unknown | AXL R48W lies within Ig-like C2-type domain 1 of the Axl protein (UniProt.org). R48W has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Mar 2024). | |
R506C | missense | no effect - predicted | AXL R506C lies within the cytoplasmic domain of the Axl protein (UniProt.org). R506C has not been biochemically characterized, but results in similar cell proliferation and viability compared to wild-type Axl in culture (PMID: 29533785), and therefore, is predicted to have no effect on Axl protein function. | |
R506H | missense | no effect - predicted | AXL R506H lies within the cytoplasmic domain of the Axl protein (UniProt.org). R506H has not been biochemically characterized, but results in similar cell proliferation and viability compared to wild-type Axl in culture (PMID: 29533785), and therefore, is predicted to have no effect on Axl protein function. | |
R507W | missense | unknown | AXL R507W lies within the cytoplasmic domain of the Axl protein (UniProt.org). R507W has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Mar 2024). | |
R527L | missense | no effect - predicted | AXL R527L lies within the cytoplasmic domain of the Axl protein (UniProt.org). R527L has not been biochemically characterized, but results in similar cell proliferation and viability compared to wild-type Axl in culture (PMID: 29533785), and therefore, is predicted to have no effect on Axl protein function. | |
R527W | missense | unknown | AXL R527W lies within the cytoplasmic domain of the Axl protein (UniProt.org). R527W has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Mar 2024). | |
R55Q | missense | unknown | AXL R55Q lies within Ig-like C2-type domain 1 of the Axl protein (UniProt.org). R55Q has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Mar 2024). | |
R610Q | missense | unknown | AXL R610Q lies within the protein kinase domain of the Axl protein (UniProt.org). R610Q has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Mar 2024). | |
R671Q | missense | unknown | AXL R671Q lies within the protein kinase domain of the Axl protein (UniProt.org). R671Q has been identified in sequencing studies (PMID: 25855536), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, May 2024). | |
R71W | missense | unknown | AXL R71W lies within Ig-like C2-type domain 1 of the Axl protein (UniProt.org). R71W has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Mar 2024). | |
R800L | missense | no effect - predicted | AXL R800L lies within the protein kinase domain of the Axl protein (UniProt.org). R800L has not been biochemically characterized, but results in similar cell proliferation and viability compared to wild-type Axl in culture (PMID: 29533785), and therefore, is predicted to have no effect on Axl protein function. | |
rearrange | unknown | unknown | AXL rearrange indicates an unspecified rearrangement of the AXL gene. | |
S128F | missense | unknown | AXL S128F lies within Ig-like C2-type domain 1 of the Axl protein (UniProt.org). S128F has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Mar 2024). | |
S265A | missense | unknown | AXL S265A lies within fibronectin type-III domain 1 of the Axl protein (UniProt.org). S265A has been identified in sequencing studies (PMID: 31328403), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Jun 2024). | |
S285L | missense | unknown | AXL S285L lies within fibronectin type-III domain 1 of the Axl protein (UniProt.org). S285L has been identified in sequencing studies (PMID: 24265153), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Mar 2024). | |
S341G | missense | unknown | AXL S341G lies within fibronectin type-III domain 2 of the Axl protein (UniProt.org). S341G has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Mar 2024). | |
S685F | missense | unknown | AXL S685F lies within the protein kinase domain of the Axl protein (UniProt.org). S685F has been identified in the scientific literature (PMID: 25568918), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Mar 2024). | |
S694F | missense | unknown | AXL S694F lies within the protein kinase domain of the Axl protein (UniProt.org). S694F has not been characterized and therefore, its effect on Axl protein function is unknown (PubMed, Mar 2024). | |
T343M | missense | unknown | AXL T343M lies within fibronectin type-III domain 2 of the Axl protein (UniProt.org). T343M has been identified in the scientific literature (PMID: 33570712), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Mar 2024). | |
T568M | missense | no effect - predicted | AXL T568M lies within the protein kinase domain of the Axl protein (UniProt.org). T568M has not been biochemically characterized, but results in similar cell proliferation and viability compared to wild-type Axl in culture (PMID: 29533785), and therefore, is predicted to have no effect on Axl protein function. | |
V289M | missense | unknown | AXL V289M lies within fibronectin type-III domain 1 of the Axl protein (UniProt.org). V289M has been identified in sequencing studies (PMID: 22610119), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Mar 2024). | |
V421L | missense | unknown | AXL V421L lies within fibronectin type-III domain 2 of the Axl protein (UniProt.org). V421L has been identified in sequencing studies (PMID: 32321774), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Jul 2024). | |
V459M | missense | unknown | AXL V459M lies within the transmembrane domain of the Axl protein (UniProt.org). V459M has been identified in sequencing studies (PMID: 26675719), but has not been biochemically characterized and therefore, its effect on Axl protein function is unknown (PubMed, Mar 2024). | |
V60F | missense | unknown | AXL V60F lies within Ig-like C2-type domain 1 of the Axl protein (UniProt.org). V60F has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, May 2024). | |
V618I | missense | unknown | AXL V618I lies within the protein kinase domain of the Axl protein (UniProt.org). V618I has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Mar 2024). | |
W426R | missense | no effect - predicted | AXL W426R lies within fibronectin type-III domain 2 of the Axl protein (UniProt.org). W426R has not been biochemically characterized, but results in similar cell proliferation and viability compared to wild-type Axl in culture (PMID: 29533785), and therefore, is predicted to have no effect on Axl protein function. | |
W69* | nonsense | loss of function - predicted | AXL W69* results in a premature truncation of the Axl protein at amino acid 69 of 894 (UniProt.org). W69* has not been biochemically characterized, but results in decreased cell proliferation and viability compared to wild-type Axl in culture (PMID: 29533785), and therefore, is predicted to lead to a loss of Axl protein function. | |
wild-type | none | no effect | Wild-type AXL indicates that no mutation has been detected within the AXL gene. | |
Y367C | missense | unknown | AXL Y367C lies within fibronectin type-III domain 2 of the Axl protein (UniProt.org). Y367C has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Mar 2024). | |
Y371C | missense | unknown | AXL Y371C lies within fibronectin type-III domain 2 of the Axl protein (UniProt.org). Y371C has not been characterized in the scientific literature and therefore, its effect on Axl protein function is unknown (PubMed, Mar 2024). | |
Y779F | missense | unknown | AXL Y779F lies within the protein kinase domain of the Axl protein (UniProt.org). Y779F demonstrates similar binding to Abl2 in the presence of ligand in cell culture (PMID: 31825826) and confers resistance Erbitux (cetuximab) in cell culture (PMID: 32439698), but has not been fully biochemically characterized and therefore, its effect on Axl protein function is unknown. | Y |
Y821F | missense | loss of function - predicted | AXL Y821F lies within the protein kinase domain of the Axl protein (PMID: 31825826). Y821F demonstrates reduced binding to Abl2 in the presence of ligand in cell culture (PMID: 31825826), and therefore, is predicted to lead to a loss of Axl protein function. | |
Y866F | missense | no effect - predicted | AXL Y866F lies within the cytoplasmic domain of the Axl protein (UniProt.org). Y866F has been demonstrated to confer resistance to Egfr inhibitors in culture (PMID: 32439698), but demonstrates similar binding to Abl2 in the presence of ligand (PMID: 31825826), and does not induce cellular transformation in culture (PMID: 9671397), and therefore, is predicted to have no effect on Axl protein function. | Y |