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 | S666P |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MSH6 S666P lies within the connector domain of the Msh6 protein (PMID: 17531815). S666P 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 S666P |
Transcript | NM_000179.3 |
gDNA | chr2:g.47799979T>C |
cDNA | c.1996T>C |
Protein | p.S666P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_024452819.1 | chr2:g.47799979T>C | c.1996T>C | p.S666P | RefSeq | GRCh38/hg38 |
NM_001406796.1 | chr2:g.47799979T>C | c.1996T>C | p.S666P | RefSeq | GRCh38/hg38 |
NM_001406800.1 | chr2:g.47799979T>C | c.1996T>C | p.S666P | RefSeq | GRCh38/hg38 |
NM_001406817.1 | chr2:g.47805623_47805624delAGinsCC | c.1996_1997delAGinsCC | p.S666P | RefSeq | GRCh38/hg38 |
NM_001406798.1 | chr2:g.47799979T>C | c.1996T>C | p.S666P | RefSeq | GRCh38/hg38 |
NM_000179.2 | chr2:g.47799979T>C | c.1996T>C | p.S666P | RefSeq | GRCh38/hg38 |
NM_000179.3 | chr2:g.47799979T>C | c.1996T>C | p.S666P | RefSeq | GRCh38/hg38 |
NM_001406809.1 | chr2:g.47799979T>C | c.1996T>C | p.S666P | RefSeq | GRCh38/hg38 |
NM_001406808.1 | chr2:g.47799979T>C | c.1996T>C | p.S666P | RefSeq | GRCh38/hg38 |
NM_001406826.1 | chr2:g.47800147T>C | c.1996T>C | p.S666P | RefSeq | GRCh38/hg38 |
NM_001406813.1 | chr2:g.47799973T>C | c.1996T>C | p.S666P | RefSeq | GRCh38/hg38 |
NM_001406803.1 | chr2:g.47799979T>C | c.1996T>C | p.S666P | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
MSH6 S666P | unknown |