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Gene | POLE |
Variant | R1519L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | POLE R1519L does not lie within any known functional domains of the Pole protein (UniProt.org). R1519L has not been characterized in the scientific literature and therefore, its effect on Pole protein function is unknown (PubMed, Dec 2023). |
Associated Drug Resistance | |
Category Variants Paths |
POLE mutant POLE R1519L |
Transcript | NM_006231.4 |
gDNA | chr12:g.132642992C>A |
cDNA | c.4556G>T |
Protein | p.R1519L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011534797 | chr12:g.132639200C>A | c.4556G>T | p.R1519L | RefSeq | GRCh38/hg38 |
XM_011534799.2 | chr12:g.132642992C>A | c.4556G>T | p.R1519L | RefSeq | GRCh38/hg38 |
XM_011534795 | chr12:g.132642992C>A | c.4556G>T | p.R1519L | RefSeq | GRCh38/hg38 |
NM_006231.3 | chr12:g.132642992C>A | c.4556G>T | p.R1519L | RefSeq | GRCh38/hg38 |
XM_011534795.4 | chr12:g.132642992C>A | c.4556G>T | p.R1519L | RefSeq | GRCh38/hg38 |
XM_011534795.3 | chr12:g.132642992C>A | c.4556G>T | p.R1519L | RefSeq | GRCh38/hg38 |
NM_006231.4 | chr12:g.132642992C>A | c.4556G>T | p.R1519L | RefSeq | GRCh38/hg38 |
XM_047429018.1 | chr12:g.132642992C>A | c.4556G>T | p.R1519L | RefSeq | GRCh38/hg38 |
XM_011534800 | chr12:g.132642992C>A | c.4556G>T | p.R1519L | RefSeq | GRCh38/hg38 |
XM_011534799.3 | chr12:g.132642992C>A | c.4556G>T | p.R1519L | RefSeq | GRCh38/hg38 |
XM_011534797.4 | chr12:g.132639200C>A | c.4556G>T | p.R1519L | RefSeq | GRCh38/hg38 |
XM_011534799 | chr12:g.132642992C>A | c.4556G>T | p.R1519L | RefSeq | GRCh38/hg38 |
XM_011534797.3 | chr12:g.132639200C>A | c.4556G>T | p.R1519L | RefSeq | GRCh38/hg38 |
NM_006231 | chr12:g.132642992C>A | c.4556G>T | p.R1519L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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