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Gene MSH6
Variant S65L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MSH6 S65L does not lie within any known functional domains of the Msh6 protein (UniProt.org). S65L demonstrates intermediate 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 S65L

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Transcript NM_000179.3
gDNA chr2:g.47783427C>T
cDNA c.194C>T
Protein p.S65L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001281492 chr2:g.47783427C>T c.194C>T p.S65L RefSeq GRCh38/hg38
NM_001406800.1 chr2:g.47783427C>T c.194C>T p.S65L RefSeq GRCh38/hg38
NM_001281492.2 chr2:g.47783427C>T c.194C>T p.S65L RefSeq GRCh38/hg38
NM_001406809.1 chr2:g.47783427C>T c.194C>T p.S65L RefSeq GRCh38/hg38
XM_024452819.1 chr2:g.47783427C>T c.194C>T p.S65L RefSeq GRCh38/hg38
XM_024452820.1 chr2:g.47791043C>T c.194C>T p.S65L RefSeq GRCh38/hg38
NM_001406798.1 chr2:g.47783427C>T c.194C>T p.S65L RefSeq GRCh38/hg38
NM_001406813.1 chr2:g.47783427C>T c.194C>T p.S65L RefSeq GRCh38/hg38
NM_001406808.1 chr2:g.47783427C>T c.194C>T p.S65L RefSeq GRCh38/hg38
NM_001406795.1 chr2:g.47783427C>T c.194C>T p.S65L RefSeq GRCh38/hg38
NM_001406802.1 chr2:g.47783427C>T c.194C>T p.S65L RefSeq GRCh38/hg38
NM_001406803.1 chr2:g.47783427C>T c.194C>T p.S65L RefSeq GRCh38/hg38
NM_000179.3 chr2:g.47783427C>T c.194C>T p.S65L RefSeq GRCh38/hg38
NM_000179.2 chr2:g.47783427C>T c.194C>T p.S65L RefSeq GRCh38/hg38
NM_001406817.1 chr2:g.47783427C>T c.194C>T p.S65L RefSeq GRCh38/hg38
NM_001281492.1 chr2:g.47783427C>T c.194C>T p.S65L RefSeq GRCh38/hg38
NM_001406796.1 chr2:g.47783427C>T c.194C>T p.S65L RefSeq GRCh38/hg38
NM_001406804.1 chr2:g.47790938C>T c.194C>T p.S65L RefSeq GRCh38/hg38
XM_011532798 chr2:g.47791043C>T c.194C>T p.S65L RefSeq GRCh38/hg38
NM_001407362.1 chr2:g.47783427C>T c.194C>T p.S65L RefSeq GRCh38/hg38
NM_000179 chr2:g.47783427C>T c.194C>T p.S65L RefSeq GRCh38/hg38

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries