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Gene MSH6
Variant V304A
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MSH6 V304A does not lie within any known functional domains of the Msh6 protein (UniProt.org). V304A does not demonstrate reduced mismatch repair activity compared to wild-type protein in an in vitro assay (PMID: 31965077), but has not been fully biochemically characterized and therefore, its effect on Msh6 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

MSH6 mutant MSH6 V304A

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Transcript NM_000179.3
gDNA chr2:g.47798894T>C
cDNA c.911T>C
Protein p.V304A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000179 chr2:g.47798894T>C c.911T>C p.V304A RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47798894T>C c.911T>C p.V304A RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47798894T>C c.911T>C p.V304A RefSeq GRCh38/hg38
NM_001406817.1 chr2:g.47798894T>C c.911T>C p.V304A RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47798894T>C c.911T>C p.V304A RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47798894T>C c.911T>C p.V304A RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47798894T>C c.911T>C p.V304A RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47798894T>C c.911T>C p.V304A RefSeq GRCh38/hg38
NM_001406803.1 chr2:g.47798894T>C c.911T>C p.V304A RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47798894T>C c.911T>C p.V304A RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47798894T>C c.911T>C p.V304A RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References