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Gene | POLE |
Variant | R1519C |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | POLE R1519C does not lie within any known functional domains of the Pole protein (UniProt.org). R1519C has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Pole protein function is unknown (PubMed, Dec 2023). |
Associated Drug Resistance | |
Category Variants Paths |
POLE mutant POLE R1519C |
Transcript | NM_006231.4 |
gDNA | chr12:g.132642993G>A |
cDNA | c.4555C>T |
Protein | p.R1519C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006231 | chr12:g.132642993G>A | c.4555C>T | p.R1519C | RefSeq | GRCh38/hg38 |
XM_011534797.3 | chr12:g.132639199_132639201delCGGinsTGT | c.4555_4557delCGGinsTGT | p.R1519C | RefSeq | GRCh38/hg38 |
NM_006231.4 | chr12:g.132642993G>A | c.4555C>T | p.R1519C | RefSeq | GRCh38/hg38 |
XM_011534799.3 | chr12:g.132642993G>A | c.4555C>T | p.R1519C | RefSeq | GRCh38/hg38 |
XM_011534797.4 | chr12:g.132639199_132639201delCGGinsTGT | c.4555_4557delCGGinsTGT | p.R1519C | RefSeq | GRCh38/hg38 |
XM_011534797 | chr12:g.132639199_132639201delCCGinsACA | c.4555_4557delCGGinsTGT | p.R1519C | RefSeq | GRCh38/hg38 |
XM_011534795 | chr12:g.132642993G>A | c.4555C>T | p.R1519C | RefSeq | GRCh38/hg38 |
XM_011534800 | chr12:g.132642993G>A | c.4555C>T | p.R1519C | RefSeq | GRCh38/hg38 |
XM_011534799 | chr12:g.132642993G>A | c.4555C>T | p.R1519C | RefSeq | GRCh38/hg38 |
XM_047429018.1 | chr12:g.132642993G>A | c.4555C>T | p.R1519C | RefSeq | GRCh38/hg38 |
XM_011534795.3 | chr12:g.132642993G>A | c.4555C>T | p.R1519C | RefSeq | GRCh38/hg38 |
XM_011534795.4 | chr12:g.132642993G>A | c.4555C>T | p.R1519C | RefSeq | GRCh38/hg38 |
XM_011534799.2 | chr12:g.132642993G>A | c.4555C>T | p.R1519C | RefSeq | GRCh38/hg38 |
NM_006231.3 | chr12:g.132642993G>A | c.4555C>T | p.R1519C | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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