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Gene | MSH6 |
Variant | G141D |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MSH6 G141D lies within the PWWP domain of the Msh6 protein (UniProt.org). G141D has been identified in sequencing studies (PMID: 30545397), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, May 2024). |
Associated Drug Resistance | |
Category Variants Paths |
MSH6 mutant MSH6 G141D |
Transcript | NM_000179.3 |
gDNA | chr2:g.47791088G>A |
cDNA | c.422G>A |
Protein | p.G141D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001406813.1 | chr2:g.47791088G>A | c.422G>A | p.G141D | RefSeq | GRCh38/hg38 |
NM_001406817.1 | chr2:g.47791088G>A | c.422G>A | p.G141D | RefSeq | GRCh38/hg38 |
NM_001406809.1 | chr2:g.47791088G>A | c.422G>A | p.G141D | RefSeq | GRCh38/hg38 |
NM_001281493 | chr2:g.47799311_47799312delGAinsAC | c.422_423delGAinsAC | p.G141D | RefSeq | GRCh38/hg38 |
NM_001407362.1 | chr2:g.47791088G>A | c.422G>A | p.G141D | RefSeq | GRCh38/hg38 |
NM_001406798.1 | chr2:g.47791088G>A | c.422G>A | p.G141D | RefSeq | GRCh38/hg38 |
NM_001281494.1 | chr2:g.47799311_47799312delGAinsAC | c.422_423delGAinsAC | p.G141D | RefSeq | GRCh38/hg38 |
NM_001406808.1 | chr2:g.47791088G>A | c.422G>A | p.G141D | RefSeq | GRCh38/hg38 |
NM_000179.3 | chr2:g.47791088G>A | c.422G>A | p.G141D | RefSeq | GRCh38/hg38 |
NM_001406796.1 | chr2:g.47791088G>A | c.422G>A | p.G141D | RefSeq | GRCh38/hg38 |
NM_001406812.1 | chr2:g.47799311_47799312delGAinsAC | c.422_423delGAinsAC | p.G141D | RefSeq | GRCh38/hg38 |
NM_001406816.1 | chr2:g.47799311_47799312delGAinsAC | c.422_423delGAinsAC | p.G141D | RefSeq | GRCh38/hg38 |
NM_001281494 | chr2:g.47799311_47799312delGAinsAC | c.422_423delGAinsAC | p.G141D | RefSeq | GRCh38/hg38 |
NM_000179.2 | chr2:g.47791088G>A | c.422G>A | p.G141D | RefSeq | GRCh38/hg38 |
NM_001406829.1 | chr2:g.47799311_47799312delGAinsAC | c.422_423delGAinsAC | p.G141D | RefSeq | GRCh38/hg38 |
NM_001406815.1 | chr2:g.47799311_47799312delGAinsAC | c.422_423delGAinsAC | p.G141D | RefSeq | GRCh38/hg38 |
NM_001406814.1 | chr2:g.47799311_47799312delGAinsAC | c.422_423delGAinsAC | p.G141D | RefSeq | GRCh38/hg38 |
XM_024452819.1 | chr2:g.47791088G>A | c.422G>A | p.G141D | RefSeq | GRCh38/hg38 |
NM_001406803.1 | chr2:g.47791088G>A | c.422G>A | p.G141D | RefSeq | GRCh38/hg38 |
NM_001406800.1 | chr2:g.47791088G>A | c.422G>A | p.G141D | RefSeq | GRCh38/hg38 |
NM_001406823.1 | chr2:g.47799311_47799312delGAinsAC | c.422_423delGAinsAC | p.G141D | RefSeq | GRCh38/hg38 |
NM_000179 | chr2:g.47791088G>A | c.422G>A | p.G141D | RefSeq | GRCh38/hg38 |
NM_001281494.2 | chr2:g.47799311_47799312delGAinsAC | c.422_423delGAinsAC | p.G141D | RefSeq | GRCh38/hg38 |
XM_024452822.1 | chr2:g.47799311_47799312delGAinsAC | c.422_423delGAinsAC | p.G141D | RefSeq | GRCh38/hg38 |
NM_001281493.1 | chr2:g.47799311_47799312delGAinsAC | c.422_423delGAinsAC | p.G141D | RefSeq | GRCh38/hg38 |
NM_001281493.2 | chr2:g.47799311_47799312delGAinsAC | c.422_423delGAinsAC | p.G141D | RefSeq | GRCh38/hg38 |
NM_001406811.1 | chr2:g.47799311_47799312delGAinsAC | c.422_423delGAinsAC | p.G141D | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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