BRIP1 K703Ifs*3
Gene Variant Detail

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Gene BRIP1
Variant K703Ifs*3
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions BRIP1 K703Ifs*3 indicates a shift in the reading frame starting at amino acid 703 and terminating 3 residues downstream causing a premature truncation of the 1249 amino acid Brip1 protein (UniProt.org). K703Ifs*3 has not been characterized, however, due to the effects of other truncation mutations downstream of K703 (PMID: 18628483), is predicted to lead to a loss of Brip1 protein function.
Associated Drug Resistance
Category Variants Paths

BRIP1 mutant BRIP1 inact mut BRIP1 K703Ifs*3

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Transcript NM_032043.3
gDNA chr17:g.61744582_61744583insAT
cDNA c.2107_2108insTA
Protein p.K703Ifs*3
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_032043.2 chr17:g.61744582_61744583insAT c.2107_2108insTA p.K703Ifs*3 RefSeq GRCh38/hg38
XM_047436892.1 chr17:g.61744582_61744583insAT c.2107_2108insTA p.K703Ifs*3 RefSeq GRCh38/hg38
XM_011525335.3 chr17:g.61744582_61744583insAT c.2107_2108insTA p.K703Ifs*3 RefSeq GRCh38/hg38
XM_047436899.1 chr17:g.61744582_61744583insAT c.2107_2108insTA p.K703Ifs*3 RefSeq GRCh38/hg38
XM_047436891.1 chr17:g.61744582_61744583insAT c.2107_2108insTA p.K703Ifs*3 RefSeq GRCh38/hg38
XM_047436896.1 chr17:g.61744582_61744583insAT c.2107_2108insTA p.K703Ifs*3 RefSeq GRCh38/hg38
NM_032043.3 chr17:g.61744582_61744583insAT c.2107_2108insTA p.K703Ifs*3 RefSeq GRCh38/hg38
XM_011525335 chr17:g.61744582_61744583insAT c.2107_2108insTA p.K703Ifs*3 RefSeq GRCh38/hg38
XM_011525335.4 chr17:g.61744582_61744583insAT c.2107_2108insTA p.K703Ifs*3 RefSeq GRCh38/hg38
NM_032043 chr17:g.61744582_61744583insAT c.2107_2108insTA p.K703Ifs*3 RefSeq GRCh38/hg38
XM_047436901.1 chr17:g.61744582_61744583insAT c.2107_2108insTA p.K703Ifs*3 RefSeq GRCh38/hg38
XM_047436897.1 chr17:g.61744582_61744583insAT c.2107_2108insTA p.K703Ifs*3 RefSeq GRCh38/hg38
XM_047436900.1 chr17:g.61744582_61744583insAT c.2107_2108insTA p.K703Ifs*3 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