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Gene | MSH6 |
Variant | R961I |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MSH6 R961I lies within the clamp domain of the Msh6 protein (PMID: 17531815). R961I has been identified in sequencing studies (PMID: 22895193, PMID: 31391288), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Apr 2024). |
Associated Drug Resistance | |
Category Variants Paths |
MSH6 mutant MSH6 R961I |
Transcript | NM_000179.3 |
gDNA | chr2:g.47800865G>T |
cDNA | c.2882G>T |
Protein | p.R961I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001406809.1 | chr2:g.47800865G>T | c.2882G>T | p.R961I | RefSeq | GRCh38/hg38 |
NM_001406829.1 | chr2:g.47806344_47806345delCGinsAT | c.2881_2882delCGinsAT | p.R961I | RefSeq | GRCh38/hg38 |
XM_024452822.1 | chr2:g.47806344_47806345delCGinsAT | c.2881_2882delCGinsAT | p.R961I | RefSeq | GRCh38/hg38 |
NM_001406815.1 | chr2:g.47806344_47806345delCGinsAT | c.2881_2882delCGinsAT | p.R961I | RefSeq | GRCh38/hg38 |
NM_001281493.1 | chr2:g.47806344_47806345delCGinsAT | c.2881_2882delCGinsAT | p.R961I | RefSeq | GRCh38/hg38 |
NM_000179.3 | chr2:g.47800865G>T | c.2882G>T | p.R961I | RefSeq | GRCh38/hg38 |
NM_000179 | chr2:g.47800865G>T | c.2882G>T | p.R961I | RefSeq | GRCh38/hg38 |
XM_024452819.1 | chr2:g.47800865G>T | c.2882G>T | p.R961I | RefSeq | GRCh38/hg38 |
NM_001281494.1 | chr2:g.47806344_47806345delCGinsAT | c.2881_2882delCGinsAT | p.R961I | RefSeq | GRCh38/hg38 |
NM_001406798.1 | chr2:g.47800865G>T | c.2882G>T | p.R961I | RefSeq | GRCh38/hg38 |
NM_001281494 | chr2:g.47806344_47806345delCGinsAT | c.2881_2882delCGinsAT | p.R961I | RefSeq | GRCh38/hg38 |
NM_001406796.1 | chr2:g.47800865G>T | c.2882G>T | p.R961I | RefSeq | GRCh38/hg38 |
NM_001406811.1 | chr2:g.47806344_47806345delCGinsAT | c.2881_2882delCGinsAT | p.R961I | RefSeq | GRCh38/hg38 |
NM_001406813.1 | chr2:g.47800858_47800859delCGinsAT | c.2881_2882delCGinsAT | p.R961I | RefSeq | GRCh38/hg38 |
NM_001406823.1 | chr2:g.47806344_47806345delCGinsAT | c.2881_2882delCGinsAT | p.R961I | RefSeq | GRCh38/hg38 |
NM_001406816.1 | chr2:g.47806344_47806345delCGinsAT | c.2881_2882delCGinsAT | p.R961I | RefSeq | GRCh38/hg38 |
NM_001281494.2 | chr2:g.47806344_47806345delCGinsAT | c.2881_2882delCGinsAT | p.R961I | RefSeq | GRCh38/hg38 |
NM_001281493 | chr2:g.47806344_47806345delCGinsAT | c.2881_2882delCGinsAT | p.R961I | RefSeq | GRCh38/hg38 |
NM_000179.2 | chr2:g.47800865G>T | c.2882G>T | p.R961I | RefSeq | GRCh38/hg38 |
NM_001281493.2 | chr2:g.47806344_47806345delCGinsAT | c.2881_2882delCGinsAT | p.R961I | RefSeq | GRCh38/hg38 |
NM_001406812.1 | chr2:g.47806344_47806345delCGinsAT | c.2881_2882delCGinsAT | p.R961I | RefSeq | GRCh38/hg38 |
NM_001406814.1 | chr2:g.47806344_47806345delCGinsAT | c.2881_2882delCGinsAT | p.R961I | RefSeq | GRCh38/hg38 |
NM_001406800.1 | chr2:g.47800865G>T | c.2882G>T | p.R961I | RefSeq | GRCh38/hg38 |
NM_001406808.1 | chr2:g.47800865G>T | c.2882G>T | p.R961I | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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