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 | I1357N |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MSH6 I1357N lies within an MSH2-binding region of the Msh6 protein (PMID: 12019211). I1357N has been identified in sequencing studies (PMID: 23525077), 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 I1357N |
Transcript | NM_000179.3 |
gDNA | chr2:g.47806847T>A |
cDNA | c.4070T>A |
Protein | p.I1357N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000179.3 | chr2:g.47806847T>A | c.4070T>A | p.I1357N | RefSeq | GRCh38/hg38 |
NM_000179.2 | chr2:g.47806847T>A | c.4070T>A | p.I1357N | RefSeq | GRCh38/hg38 |
NM_000179 | chr2:g.47806847T>A | c.4070T>A | p.I1357N | RefSeq | GRCh38/hg38 |
NM_001406796.1 | chr2:g.47806847T>A | c.4070T>A | p.I1357N | RefSeq | GRCh38/hg38 |
NM_001406809.1 | chr2:g.47806847T>A | c.4070T>A | p.I1357N | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|