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@jax.org
Gene | PMS2 |
Variant | T485K |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PMS2 T485K does not lie within any known functional domains of the Pms2 protein (UniProt.org). T485K demonstrates reduced mismatch repair (MMR) activity compared to wild-type Pms2, but higher MMR activity compared to a Pms2 deficient control in an in vitro assay (PMID: 24027009), and therefore, its effect on Pms2 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
PMS2 mutant PMS2 T485K |
Transcript | NM_000535.7 |
gDNA | chr7:g.5987311G>T |
cDNA | c.1454C>A |
Protein | p.T485K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001322014.1 | chr7:g.5987311G>T | c.1454C>A | p.T485K | RefSeq | GRCh38/hg38 |
NM_000535.7 | chr7:g.5987311G>T | c.1454C>A | p.T485K | RefSeq | GRCh38/hg38 |
NM_001406885.1 | chr7:g.5986974_5986975delCTinsAG | c.1454_1455delCTinsAG | p.T485K | RefSeq | GRCh38/hg38 |
NM_001406872.1 | chr7:g.5987311G>T | c.1454C>A | p.T485K | RefSeq | GRCh38/hg38 |
NM_000535 | chr7:g.5987311G>T | c.1454C>A | p.T485K | RefSeq | GRCh38/hg38 |
NM_000535.6 | chr7:g.5987311G>T | c.1454C>A | p.T485K | RefSeq | GRCh38/hg38 |
NM_001322014.2 | chr7:g.5987311G>T | c.1454C>A | p.T485K | RefSeq | GRCh38/hg38 |
NM_001322014 | chr7:g.5987311G>T | c.1454C>A | p.T485K | RefSeq | GRCh38/hg38 |
NM_001406871.1 | chr7:g.5987311G>T | c.1454C>A | p.T485K | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|