SRC E527K
Gene Variant Detail

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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
Category Variants Paths

SRC mutant SRC act mut SRC E527K

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Transcript NM_198291.3
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
XM_047440401.1 chr20:g.37403347G>A c.1579G>A p.E527K RefSeq GRCh38/hg38
XM_047440403.1 chr20:g.37403347G>A c.1579G>A p.E527K RefSeq GRCh38/hg38
XM_047440413.1 chr20:g.37403347G>A c.1579G>A p.E527K RefSeq GRCh38/hg38
NM_005417.4 chr20:g.37403347G>A c.1579G>A p.E527K RefSeq GRCh38/hg38
XM_047440412.1 chr20:g.37403347G>A c.1579G>A p.E527K RefSeq GRCh38/hg38
XM_047440410.1 chr20:g.37403347G>A c.1579G>A p.E527K RefSeq GRCh38/hg38
NM_198291.3 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
XM_047440406.1 chr20:g.37403347G>A c.1579G>A p.E527K RefSeq GRCh38/hg38
NM_005417.5 chr20:g.37403347G>A c.1579G>A p.E527K RefSeq GRCh38/hg38
XM_047440404.1 chr20:g.37403347G>A c.1579G>A p.E527K RefSeq GRCh38/hg38
NM_198291.2 chr20:g.37403347G>A c.1579G>A p.E527K RefSeq GRCh38/hg38
XM_047440402.1 chr20:g.37403347G>A c.1579G>A p.E527K RefSeq GRCh38/hg38
XM_047440411.1 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
XM_047440405.1 chr20:g.37403347G>A c.1579G>A p.E527K RefSeq GRCh38/hg38
XM_011529013.2 chr20:g.37403347G>A c.1579G>A p.E527K RefSeq GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References