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Gene | PMS2 |
Variant | K593Sfs*2 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PMS2 K593Sfs*2 indicates a shift in the reading frame starting at amino acid 593 and terminating 2 residues downstream causing a premature truncation of the 862 amino acid Pms2 protein (UniProt.org). K593Sfs*2 has not been characterized, however, due to the effects of other truncation mutations downstream of K593 (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 K593Sfs*2 |
Transcript | NM_000535.7 |
gDNA | chr7:g.5986990delT |
cDNA | c.1778delA |
Protein | p.K593Sfs*2 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001322014.1 | chr7:g.5986990delT | c.1778delA | p.K593Sfs*2 | RefSeq | GRCh38/hg38 |
NM_001406871.1 | chr7:g.5986990delT | c.1778delA | p.K593Sfs*2 | RefSeq | GRCh38/hg38 |
XM_047420484.1 | chr7:g.5986876_5986877insAGC | c.1777_1778insGCT | p.K593Sfs*2 | RefSeq | GRCh38/hg38 |
NM_001406872.1 | chr7:g.5986990delT | c.1778delA | p.K593Sfs*2 | RefSeq | GRCh38/hg38 |
NM_000535.6 | chr7:g.5986990delT | c.1778delA | p.K593Sfs*2 | RefSeq | GRCh38/hg38 |
NM_000535.7 | chr7:g.5986990delT | c.1778delA | p.K593Sfs*2 | RefSeq | GRCh38/hg38 |
NM_001406900.1 | chr7:g.5978628_5978629insAGC | c.1777_1778insGCT | p.K593Sfs*2 | RefSeq | GRCh38/hg38 |
NM_001322014.2 | chr7:g.5986990delT | c.1778delA | p.K593Sfs*2 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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