Gene Variant Detail

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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

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Transcript NM_198291
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
NM_198291 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
XM_011529013 chr20:g.37403359C>T c.1591C>T p.Q531* RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
SRC Q531* gain of function Bosutinib Dasatinib
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References