Gene Variant Detail

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Gene ETV6
Variant Y103fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ETV6 Y103fs (corresponds to Y104 in the canonical isoform) results in a change in the amino acid sequence of the Etv6 protein beginning at aa 103 of 451, likely resulting in premature truncation of the functional protein (UniProt.org). Y103fs fails to repress transcriptional activity in a reporter assay (PMID: 22162831), and therefore, is predicted to lead to a loss of Etv6 protein function.
Associated Drug Resistance

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Transcript XM_011520607
gDNA chr12:g.(11839285_11839286)
cDNA c.(307_306)
Protein p.Y103fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011520607 chr12:g.(11839285_11839286) c.(307_306) p.Y103fs RefSeq GRCh38/hg38

Filtering

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  • 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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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Protein Effect Treatment Approaches
ETV6 Y103fs loss of function - predicted