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Gene | PMS2 |
Variant | Y519C |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PMS2 Y519C does not lie within any known functional domains of the Pms2 protein (UniProt.org). Y519C demonstrates mismatch repair (MMR) activity comparable to E541K, a polymorphic PMS2 allele, but below the levels of wild-type Pms2 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 Y519C |
Transcript | NM_000535.7 |
gDNA | chr7:g.5987209T>C |
cDNA | c.1556A>G |
Protein | p.Y519C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000535 | chr7:g.5987209T>C | c.1556A>G | p.Y519C | RefSeq | GRCh38/hg38 |
NM_000535.6 | chr7:g.5987209T>C | c.1556A>G | p.Y519C | RefSeq | GRCh38/hg38 |
NM_001322014.1 | chr7:g.5987209T>C | c.1556A>G | p.Y519C | RefSeq | GRCh38/hg38 |
NM_001322014 | chr7:g.5987209T>C | c.1556A>G | p.Y519C | RefSeq | GRCh38/hg38 |
NM_001406871.1 | chr7:g.5987209T>C | c.1556A>G | p.Y519C | RefSeq | GRCh38/hg38 |
NM_001322014.2 | chr7:g.5987209T>C | c.1556A>G | p.Y519C | RefSeq | GRCh38/hg38 |
NM_001406872.1 | chr7:g.5987209T>C | c.1556A>G | p.Y519C | RefSeq | GRCh38/hg38 |
NM_000535.7 | chr7:g.5987209T>C | c.1556A>G | p.Y519C | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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