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| Gene | AXL |
| Variant | C117R |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | AXL C117R lies within Ig-like C2-type domain 1 of the Axl protein (UniProt.org). C117R 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, Mar 2026). |
| Associated Drug Resistance | |
| Category Variants Paths |
AXL mutant AXL C117R |
| Transcript | NM_021913.5 |
| gDNA | chr19:g.41221186T>C |
| cDNA | c.349T>C |
| Protein | p.C117R |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_021913.4 | chr19:g.41221186T>C | c.349T>C | p.C117R | RefSeq | GRCh38/hg38 |
| NM_001699.5 | chr19:g.41221186T>C | c.349T>C | p.C117R | RefSeq | GRCh38/hg38 |
| NM_001699.6 | chr19:g.41221186T>C | c.349T>C | p.C117R | RefSeq | GRCh38/hg38 |
| NM_021913.5 | chr19:g.41221186T>C | c.349T>C | p.C117R | RefSeq | GRCh38/hg38 |
| NM_021913 | chr19:g.41221186T>C | c.349T>C | p.C117R | RefSeq | GRCh38/hg38 |
| NM_001699 | chr19:g.41221186T>C | c.349T>C | p.C117R | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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