MSH2 A913fs
Gene Variant Detail

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Gene MSH2
Variant A913fs
Impact List frameshift
Protein Effect unknown
Gene Variant Descriptions MSH2 A913fs results in a change in the amino acid sequence of the Msh2 protein beginning at aa 913 of 934, likely resulting in premature truncation of the functional protein (UniProt.org). A913fs is associated with loss of Msh2 expression in patient samples (PMID: 26674132), but has not been fully biochemically characterized and therefore, its effect on Msh2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

MSH2 mutant MSH2 A913fs

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Transcript NM_000251.3
gDNA chr2:g.(47482880_47482881)
cDNA c.(2737_2736)
Protein p.A913fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000251.3 chr2:g.(47482880_47482881) c.(2737_2736) p.A913fs RefSeq GRCh38/hg38
NM_001406641.1 chr2:g.(47482880_47482881) c.(2737_2736) p.A913fs RefSeq GRCh38/hg38

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