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Gene | POLE |
Variant | A629D |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | POLE A629D lies within the polymerase domain of the Pole protein (PMID: 29352080). A629D has been identified in the scientific literature (PMID: 35817971, PMID: 31253177), 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 A629D |
Transcript | NM_006231.4 |
gDNA | chr12:g.132668848G>T |
cDNA | c.1886C>A |
Protein | p.A629D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011534799.2 | chr12:g.132668848G>T | c.1886C>A | p.A629D | RefSeq | GRCh38/hg38 |
XM_011534795.4 | chr12:g.132668848G>T | c.1886C>A | p.A629D | RefSeq | GRCh38/hg38 |
XM_011534795.3 | chr12:g.132668848G>T | c.1886C>A | p.A629D | RefSeq | GRCh38/hg38 |
XM_047429018.1 | chr12:g.132668848G>T | c.1886C>A | p.A629D | RefSeq | GRCh38/hg38 |
NM_006231.3 | chr12:g.132668848G>T | c.1886C>A | p.A629D | RefSeq | GRCh38/hg38 |
NM_006231.4 | chr12:g.132668848G>T | c.1886C>A | p.A629D | RefSeq | GRCh38/hg38 |
XM_011534799.3 | chr12:g.132668848G>T | c.1886C>A | p.A629D | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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