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Gene | PMS2 |
Variant | E705K |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PMS2 E705K does not lie within any known functional domains of the Pms2 protein (UniProt.org). E705K results in reduced mismatch repair (MMR) activity in an in vitro assay (PMID: 16873062, PMID: 24027009). |
Associated Drug Resistance | |
Category Variants Paths |
PMS2 mutant PMS2 inact mut PMS2 E705K |
Transcript | NM_000535.7 |
gDNA | chr7:g.5982885C>T |
cDNA | c.2113G>A |
Protein | p.E705K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001322014.1 | chr7:g.5982885C>T | c.2113G>A | p.E705K | RefSeq | GRCh38/hg38 |
NM_001406871.1 | chr7:g.5982885C>T | c.2113G>A | p.E705K | RefSeq | GRCh38/hg38 |
NM_000535.6 | chr7:g.5982885C>T | c.2113G>A | p.E705K | RefSeq | GRCh38/hg38 |
NM_001322006.1 | chr7:g.5978602C>T | c.2113G>A | p.E705K | RefSeq | GRCh38/hg38 |
NM_001322006.2 | chr7:g.5978602C>T | c.2113G>A | p.E705K | RefSeq | GRCh38/hg38 |
NM_000535.7 | chr7:g.5982885C>T | c.2113G>A | p.E705K | RefSeq | GRCh38/hg38 |
NM_000535 | chr7:g.5982885C>T | c.2113G>A | p.E705K | RefSeq | GRCh38/hg38 |
NM_001322014 | chr7:g.5982885C>T | c.2113G>A | p.E705K | RefSeq | GRCh38/hg38 |
NM_001322006 | chr7:g.5978602C>T | c.2113G>A | p.E705K | RefSeq | GRCh38/hg38 |
NM_001406869.1 | chr7:g.5978650C>T | c.2113G>A | p.E705K | RefSeq | GRCh38/hg38 |
NM_001322014.2 | chr7:g.5982885C>T | c.2113G>A | p.E705K | RefSeq | GRCh38/hg38 |
NM_001406870.1 | chr7:g.5978602C>T | c.2113G>A | p.E705K | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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