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Gene SRC
Variant E527K
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions SRC E527K does not lie within any known functional domains of the Src protein (UniProt.org). E527K results in resistance of Src to phosphorylation and inactivation by CSK, increased Src kinase activity and phosphorylation in culture, leading to blood and bone pathologies in animal models (PMID: 7592628, PMID: 26936507), and is associated with drug resistance in culture (PMID: 25350844).
Associated Drug Resistance Y

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Transcript NM_198291
gDNA chr20:g.37403347G>A
cDNA c.1579G>A
Protein p.E527K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011529013 chr20:g.37403347G>A c.1579G>A p.E527K RefSeq GRCh38/hg38
NM_005417 chr20:g.37403347G>A c.1579G>A p.E527K RefSeq GRCh38/hg38
NM_198291 chr20:g.37403347G>A c.1579G>A p.E527K 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
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ERBB2 amp SRC E527K gastroesophageal junction adenocarcinoma resistant Lapatinib Preclinical - Cell culture Actionable In a preclinical study, an ERBB2 (HER2)-amplified gastroesophageal cancer cell line initially sensitive to treatment with Tykerb (lapatinib) in culture developed resistance and was subsequently found to have acquired a secondary drug resistant mutation, SRC E527K (PMID: 25350844). 25350844
ERBB2 amp SRC E527K gastroesophageal junction adenocarcinoma sensitive Lapatinib + Saracatinib Preclinical - Cell culture Actionable In a preclinical study, the combination of Tykerb (lapatinib) and Saracatinib (AZD0530) inhibited growth of ERBB2 (HER2)-amplified gastroesophageal adenocarcinoma cells harboring SRC E527K in culture (PMID: 25350844). 25350844
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Protein Effect Treatment Approaches
SRC E527K gain of function Bosutinib Dasatinib
ERBB2 amp SRC E527K