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Gene | POLE |
Variant | T279A |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | POLE T279A lies within the exonuclease domain of the Pole protein (PMID: 29352080). T279A has been identified in sequencing studies (PMID: 32801757), but has not been biochemically characterized and therefore, its effect on Pole protein function is unknown (PubMed, Mar 2024). |
Associated Drug Resistance | |
Category Variants Paths |
POLE mutant POLE T279A |
Transcript | NM_006231.4 |
gDNA | chr12:g.132676620T>C |
cDNA | c.835A>G |
Protein | p.T279A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011534795 | chr12:g.132676620T>C | c.835A>G | p.T279A | RefSeq | GRCh38/hg38 |
XM_011534800 | chr12:g.132676620T>C | c.835A>G | p.T279A | RefSeq | GRCh38/hg38 |
XM_011534799.3 | chr12:g.132676620T>C | c.835A>G | p.T279A | RefSeq | GRCh38/hg38 |
XM_011534799 | chr12:g.132676620T>C | c.835A>G | p.T279A | RefSeq | GRCh38/hg38 |
XM_011534799.2 | chr12:g.132676620T>C | c.835A>G | p.T279A | RefSeq | GRCh38/hg38 |
NM_006231.3 | chr12:g.132676620T>C | c.835A>G | p.T279A | RefSeq | GRCh38/hg38 |
XM_047429018.1 | chr12:g.132676620T>C | c.835A>G | p.T279A | RefSeq | GRCh38/hg38 |
NM_006231 | chr12:g.132676620T>C | c.835A>G | p.T279A | RefSeq | GRCh38/hg38 |
XM_011534795.3 | chr12:g.132676620T>C | c.835A>G | p.T279A | RefSeq | GRCh38/hg38 |
NM_006231.4 | chr12:g.132676620T>C | c.835A>G | p.T279A | RefSeq | GRCh38/hg38 |
XM_011534795.4 | chr12:g.132676620T>C | c.835A>G | p.T279A | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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