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Gene | POLE |
Variant | D275A |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | POLE D275A lies within the exonuclease domain of the Pole protein (PMID: 29352080). D275A results in increased nucleotide error rates in combination with E277A in cell culture (PMID: 29488881, PMID: 29559562), but has not been individually characterized and therefore, its effect on Pole protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
POLE mutant POLE D275A |
Transcript | NM_006231.4 |
gDNA | chr12:g.132676631T>G |
cDNA | c.824A>C |
Protein | p.D275A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011534795.4 | chr12:g.132676631T>G | c.824A>C | p.D275A | RefSeq | GRCh38/hg38 |
XM_011534799 | chr12:g.132676631T>G | c.824A>C | p.D275A | RefSeq | GRCh38/hg38 |
XM_011534799.3 | chr12:g.132676631T>G | c.824A>C | p.D275A | RefSeq | GRCh38/hg38 |
NM_006231 | chr12:g.132676631T>G | c.824A>C | p.D275A | RefSeq | GRCh38/hg38 |
NM_006231.4 | chr12:g.132676631T>G | c.824A>C | p.D275A | RefSeq | GRCh38/hg38 |
XM_011534800 | chr12:g.132676631T>G | c.824A>C | p.D275A | RefSeq | GRCh38/hg38 |
XM_047429018.1 | chr12:g.132676631T>G | c.824A>C | p.D275A | RefSeq | GRCh38/hg38 |
NM_006231.3 | chr12:g.132676631T>G | c.824A>C | p.D275A | RefSeq | GRCh38/hg38 |
XM_011534795.3 | chr12:g.132676631T>G | c.824A>C | p.D275A | RefSeq | GRCh38/hg38 |
XM_011534799.2 | chr12:g.132676631T>G | c.824A>C | p.D275A | RefSeq | GRCh38/hg38 |
XM_011534795 | chr12:g.132676631T>G | c.824A>C | p.D275A | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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