Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | MSH6 |
Variant | R1095C |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MSH6 R1095C lies within the ATPase domain of the Msh6 protein (PMID: 17531815). R1095C was not identified to interfere with Msh6 mismatch repair activity in a functional screen in mouse cells (PMID: 28531214), 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 R1095C |
Transcript | NM_000179.3 |
gDNA | chr2:g.47803530C>T |
cDNA | c.3283C>T |
Protein | p.R1095C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001406809.1 | chr2:g.47803530C>T | c.3283C>T | p.R1095C | RefSeq | GRCh38/hg38 |
NM_001406808.1 | chr2:g.47803530C>T | c.3283C>T | p.R1095C | RefSeq | GRCh38/hg38 |
NM_000179.2 | chr2:g.47803530C>T | c.3283C>T | p.R1095C | RefSeq | GRCh38/hg38 |
XM_024452819.1 | chr2:g.47803530C>T | c.3283C>T | p.R1095C | RefSeq | GRCh38/hg38 |
NM_000179.3 | chr2:g.47803530C>T | c.3283C>T | p.R1095C | RefSeq | GRCh38/hg38 |
NM_001406800.1 | chr2:g.47803530C>T | c.3283C>T | p.R1095C | RefSeq | GRCh38/hg38 |
NM_001406796.1 | chr2:g.47803530C>T | c.3283C>T | p.R1095C | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|