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Gene | PMS2 |
Variant | R563* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PMS2 R563* results in a premature truncation of the Pms2 protein at amino acid 563 of 862 (UniProt.org). R563* has not been characterized, however, due to the effects of other truncation mutations downstream of R563 (PMID: 12697830), is predicted to lead to a loss of Pms2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PMS2 mutant PMS2 inact mut PMS2 R563* |
Transcript | NM_000535.7 |
gDNA | chr7:g.5987078G>A |
cDNA | c.1687C>T |
Protein | p.R563* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000535 | chr7:g.5987078G>A | c.1687C>T | p.R563* | RefSeq | GRCh38/hg38 |
NM_001406871.1 | chr7:g.5987078G>A | c.1687C>T | p.R563* | RefSeq | GRCh38/hg38 |
NM_001322014 | chr7:g.5987078G>A | c.1687C>T | p.R563* | RefSeq | GRCh38/hg38 |
NM_001406872.1 | chr7:g.5987078G>A | c.1687C>T | p.R563* | RefSeq | GRCh38/hg38 |
NM_001406910.1 | chr7:g.5977629G>A | c.1687C>T | p.R563* | RefSeq | GRCh38/hg38 |
NM_000535.6 | chr7:g.5987078G>A | c.1687C>T | p.R563* | RefSeq | GRCh38/hg38 |
NM_001322014.2 | chr7:g.5987078G>A | c.1687C>T | p.R563* | RefSeq | GRCh38/hg38 |
NM_001406903.1 | chr7:g.5986760T>A | c.1687A>T | p.R563* | RefSeq | GRCh38/hg38 |
NM_001322014.1 | chr7:g.5987078G>A | c.1687C>T | p.R563* | RefSeq | GRCh38/hg38 |
NM_000535.7 | chr7:g.5987078G>A | c.1687C>T | p.R563* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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