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Gene | PMS2 |
Variant | K651R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PMS2 K651R does not lie within any known functional domains of the Pms2 protein (UniProt.org). K651R has been identified in the scientific literature (PMID: 30709382, PMID: 30603682, PMID: 35939113), but has not been biochemically characterized and therefore, its effect on Pms2 protein function is unknown (PubMed, Dec 2023). |
Associated Drug Resistance | |
Category Variants Paths |
PMS2 mutant PMS2 K651R |
Transcript | NM_000535.7 |
gDNA | chr7:g.5986813T>C |
cDNA | c.1952A>G |
Protein | p.K651R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001322014.1 | chr7:g.5986813T>C | c.1952A>G | p.K651R | RefSeq | GRCh38/hg38 |
NM_001406872.1 | chr7:g.5986813T>C | c.1952A>G | p.K651R | RefSeq | GRCh38/hg38 |
NM_001322014 | chr7:g.5986813T>C | c.1952A>G | p.K651R | RefSeq | GRCh38/hg38 |
NM_001322014.2 | chr7:g.5986813T>C | c.1952A>G | p.K651R | RefSeq | GRCh38/hg38 |
NM_001406871.1 | chr7:g.5986813T>C | c.1952A>G | p.K651R | RefSeq | GRCh38/hg38 |
NM_000535.6 | chr7:g.5986813T>C | c.1952A>G | p.K651R | RefSeq | GRCh38/hg38 |
NM_000535.7 | chr7:g.5986813T>C | c.1952A>G | p.K651R | RefSeq | GRCh38/hg38 |
NM_000535 | chr7:g.5986813T>C | c.1952A>G | p.K651R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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