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| Gene | SRC |
| Variant | Q531* |
| Impact List | nonsense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | SRC Q531* results in a premature truncation of the Src protein at amino acid 531 of 536 (UniProt.org). Q531* confers a gain of function on the Src protein as demonstrated by increased Src kinase activity compared to wild-type Src, transformation of cultured cells, increased cell invasion, and tumor metastasis in animal models (PMID: 9988270). |
| Associated Drug Resistance | |
| Category Variants Paths |
SRC mutant SRC act mut SRC Q531* |
| Transcript | NM_198291.3 |
| gDNA | chr20:g.37403359C>T |
| cDNA | c.1591C>T |
| Protein | p.Q531* |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_047440412.1 | chr20:g.37403359C>T | c.1591C>T | p.Q531* | RefSeq | GRCh38/hg38 |
| NM_005417.4 | chr20:g.37403359C>T | c.1591C>T | p.Q531* | RefSeq | GRCh38/hg38 |
| XM_047440411.1 | chr20:g.37403359C>T | c.1591C>T | p.Q531* | RefSeq | GRCh38/hg38 |
| XM_047440404.1 | chr20:g.37403359C>T | c.1591C>T | p.Q531* | RefSeq | GRCh38/hg38 |
| XM_047440401.1 | chr20:g.37403359C>T | c.1591C>T | p.Q531* | RefSeq | GRCh38/hg38 |
| XM_011529013.2 | chr20:g.37403359C>T | c.1591C>T | p.Q531* | RefSeq | GRCh38/hg38 |
| NM_005417.5 | chr20:g.37403359C>T | c.1591C>T | p.Q531* | RefSeq | GRCh38/hg38 |
| XM_047440410.1 | chr20:g.37403359C>T | c.1591C>T | p.Q531* | RefSeq | GRCh38/hg38 |
| XM_047440413.1 | chr20:g.37403359C>T | c.1591C>T | p.Q531* | RefSeq | GRCh38/hg38 |
| NM_198291 | chr20:g.37403359C>T | c.1591C>T | p.Q531* | RefSeq | GRCh38/hg38 |
| NM_198291.3 | chr20:g.37403359C>T | c.1591C>T | p.Q531* | RefSeq | GRCh38/hg38 |
| XM_011529013 | chr20:g.37403359C>T | c.1591C>T | p.Q531* | RefSeq | GRCh38/hg38 |
| XM_047440406.1 | chr20:g.37403359C>T | c.1591C>T | p.Q531* | RefSeq | GRCh38/hg38 |
| XM_047440403.1 | chr20:g.37403359C>T | c.1591C>T | p.Q531* | RefSeq | GRCh38/hg38 |
| XM_047440402.1 | chr20:g.37403359C>T | c.1591C>T | p.Q531* | RefSeq | GRCh38/hg38 |
| XM_047440405.1 | chr20:g.37403359C>T | c.1591C>T | p.Q531* | RefSeq | GRCh38/hg38 |
| NM_198291.2 | chr20:g.37403359C>T | c.1591C>T | p.Q531* | RefSeq | GRCh38/hg38 |
| NM_005417 | chr20:g.37403359C>T | c.1591C>T | p.Q531* | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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