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Gene MSH6
Variant S315F
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MSH6 S315F does not lie within any known functional domains of the Msh6 protein (UniProt.org). S315F results in nuclear localization similar to wild-type Msh6 in cultured cells (PMID: 21437237), 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 S315F

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Transcript NM_000179.3
gDNA chr2:g.47798927C>T
cDNA c.944C>T
Protein p.S315F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406809.1 chr2:g.47798927C>T c.944C>T p.S315F RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47798927C>T c.944C>T p.S315F RefSeq GRCh38/hg38
NM_001281492.2 chr2:g.47799316_47799317delAGinsTT c.943_944delAGinsTT p.S315F RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47798927C>T c.944C>T p.S315F RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47798927C>T c.944C>T p.S315F RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47798927C>T c.944C>T p.S315F RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47798927C>T c.944C>T p.S315F RefSeq GRCh38/hg38
NM_001406804.1 chr2:g.47799005C>T c.944C>T p.S315F RefSeq GRCh38/hg38
NM_001406817.1 chr2:g.47798927C>T c.944C>T p.S315F RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47798927C>T c.944C>T p.S315F RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47798927C>T c.944C>T p.S315F RefSeq GRCh38/hg38
NM_001406803.1 chr2:g.47798927C>T c.944C>T p.S315F RefSeq GRCh38/hg38

Filtering

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