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Gene Symbol | TYRO3 | ||||||||||
Synonyms | BYK | Dtk | Etk-2 | Rek | RSE | Sky | Tif | ||||||||||
Gene Description | TYRO3, TYRO3 protein tyrosine kinase, is a member of the TAM family (Tyro3, Axl, and Mer) and plays a role in regulation of the immune system and cell survival, migration, and differentiation through activation of PI3K and AKT (PMID: 30322068, PMID: 20546121). Overexpression of Tyro3 has been observed in leukemia, thyroid cancer, metastatic colorectal cancer, and melanoma (PMID: 30322068), and is associated with metastasis and poor prognosis in gastric cancer (PMID: 32018224) and pancreatic cancer (PMID: 31765735). | ||||||||||
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Variant | Impact | Protein Effect | Variant Description | Associated with drug Resistance |
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A717T | missense | unknown | TYRO3 A717T lies within the protein kinase domain of the Tyro3 protein (UniProt.org). A717T has not been characterized and therefore, its effect on Tyro3 protein function is unknown (PubMed, May 2024). | |
act mut | unknown | gain of function | TYRO3 act mut indicates that this variant results in a gain of function in the Tyro3 protein. However, the specific amino acid change has not been identified. | |
amp | none | no effect | TYRO3 amplification indicates an increased number of copies of the TYRO3 gene. However, the mechanism causing the increase is unspecified. | |
C690R | missense | unknown | TYRO3 C690R lies within the protein kinase domain of the Tyro3 protein (UniProt.org). C690R has been identified in sequencing studies (PMID: 18252861), but has not been biochemically characterized and therefore, its effect on Tyro3 protein function is unknown (PubMed, May 2024). | |
E352D | missense | unknown | TYRO3 E352D lies within fibronectin type-III domain 2 of the Tyro3 protein (UniProt.org). E352D has not been characterized in the scientific literature and therefore, its effect on Tyro3 protein function is unknown (PubMed, May 2024). | |
G675R | missense | unknown | TYRO3 G675R lies within the protein kinase domain of the Tyro3 protein (UniProt.org). G675R has been identified in the scientific literature (PMID: 21097718), but has not been biochemically characterized and therefore, its effect on Tyro3 protein function is unknown (PubMed, May 2024). | |
G719R | missense | unknown | TYRO3 G719R lies within the protein kinase domain of the Tyro3 protein (UniProt.org). G719R has not been characterized in the scientific literature and therefore, its effect on Tyro3 protein function is unknown (PubMed, May 2024). | |
G817D | missense | unknown | TYRO3 G817D lies within the cytoplasmic domain of the Tyro3 protein (UniProt.org). G817D has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Tyro3 protein function is unknown (PubMed, May 2024). | |
inact mut | unknown | loss of function | TYRO3 inact mut indicates that this variant results in a loss of function of the Tyro3 protein. However, the specific amino acid change has not been identified. | |
K538M | missense | unknown | TYRO3 K538M lies within the protein kinase domain of the Tyro3 protein (UniProt.org). K538M has not been characterized and therefore, its effect on Tyro3 protein function is unknown (PubMed, May 2024). | |
M600I | missense | unknown | TYRO3 M600I lies within the protein kinase domain of the Tyro3 protein (UniProt.org). M600I has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Tyro3 protein function is unknown (PubMed, May 2024). | |
mutant | unknown | unknown | TYRO3 mutant indicates an unspecified mutation in the TYRO3 gene. | |
N623K | missense | unknown | TYRO3 N623K lies within the protein kinase domain of the Tyro3 protein (UniProt.org). N623K has not been characterized and therefore, its effect on Tyro3 protein function is unknown (PubMed, May 2024). | |
over exp | none | no effect | TYRO3 over exp indicates an over expression of the Tyro3 protein. However, the mechanism causing the over expression is unspecified. | |
P185S | missense | unknown | TYRO3 P185S lies within Ig-like C2-type domain 2 of the Tyro3 protein (UniProt.org). P185S has not been characterized and therefore, its effect on Tyro3 protein function is unknown (PubMed, May 2024). | |
R426L | missense | unknown | TYRO3 R426L does not lie within any known functional domains of the Tyro3 protein (UniProt.org). R426L has not been characterized in the scientific literature and therefore, its effect on Tyro3 protein function is unknown (PubMed, Apr 2024). | |
R452* | nonsense | loss of function - predicted | TYRO3 R452* results in a premature truncation of the Tyro3 protein at amino acid 452 of 890 (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), R452* is predicted to lead to a loss of Tyro3 protein function. | |
R452Q | missense | unknown | TYRO3 R452Q lies within the cytoplasmic domain of the Tyro3 protein (UniProt.org). R452Q has not been characterized in the scientific literature and therefore, its effect on Tyro3 protein function is unknown (PubMed, May 2024). | |
R595C | missense | unknown | TYRO3 R595C lies within the protein kinase domain of the Tyro3 protein (UniProt.org). R595C has not been characterized in the scientific literature and therefore, its effect on Tyro3 protein function is unknown (PubMed, May 2024). | |
V392I | missense | unknown | TYRO3 V392I lies within fibronectin type-III domain 2 of the Tyro3 protein (UniProt.org). V392I has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Tyro3 protein function is unknown (PubMed, May 2024). |