Gene Variant Detail

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Gene PTPN11
Variant E76V
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions PTPN11 E76V lies within the SH2 domain 1 of the Ptpn11 protein (UniProt.org). E76V results in increased Tgfb1-induced expression of the mesenchymal genes Snail1/2, Cdh2, Fn1, Vim, and Col1a1 compared to wild-type Ptpn11 in cultured cells (PMID: 25331952), and therefore, is predicted to lead to a gain of Ptpn11 protein function.
Associated Drug Resistance

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Transcript NM_002834
gDNA chr12:g.112450407A>T
cDNA c.227A>T
Protein p.E76V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002834 chr12:g.112450407A>T c.227A>T p.E76V RefSeq GRCh38/hg38
NM_080601 chr12:g.112450407A>T c.227A>T p.E76V RefSeq GRCh38/hg38
XM_006719526 chr12:g.112450407A>T c.227A>T p.E76V 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"

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  • Click on any column header arrows to sort by that column
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Molecular Profile Protein Effect Treatment Approaches
PTPN11 E76V gain of function - predicted
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References