Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@jax.org
Gene | POLE |
Variant | T457L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | POLE T457L lies within the exonuclease domain of the Pole protein (PMID: 29352080). T457L 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 T457L |
Transcript | NM_006231.4 |
gDNA | chr12:g.132673267_132673268delACinsCT |
cDNA | c.1369_1370delACinsCT |
Protein | p.T457L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011534799.2 | chr12:g.132673267_132673268delACinsCT | c.1369_1370delACinsCT | p.T457L | RefSeq | GRCh38/hg38 |
XM_011534795.4 | chr12:g.132673267_132673268delACinsCT | c.1369_1370delACinsCT | p.T457L | RefSeq | GRCh38/hg38 |
XM_011534795.3 | chr12:g.132673267_132673268delACinsCT | c.1369_1370delACinsCT | p.T457L | RefSeq | GRCh38/hg38 |
XM_011534799 | chr12:g.132673267_132673268delGTinsAG | c.1369_1370delACinsCT | p.T457L | RefSeq | GRCh38/hg38 |
NM_006231.3 | chr12:g.132673267_132673268delACinsCT | c.1369_1370delACinsCT | p.T457L | RefSeq | GRCh38/hg38 |
NM_006231.4 | chr12:g.132673267_132673268delACinsCT | c.1369_1370delACinsCT | p.T457L | RefSeq | GRCh38/hg38 |
NM_006231 | chr12:g.132673267_132673268delGTinsAG | c.1369_1370delACinsCT | p.T457L | RefSeq | GRCh38/hg38 |
XM_011534795 | chr12:g.132673267_132673268delGTinsAG | c.1369_1370delACinsCT | p.T457L | RefSeq | GRCh38/hg38 |
XM_047429018.1 | chr12:g.132673267_132673268delACinsCT | c.1369_1370delACinsCT | p.T457L | RefSeq | GRCh38/hg38 |
XM_011534799.3 | chr12:g.132673267_132673268delACinsCT | c.1369_1370delACinsCT | p.T457L | RefSeq | GRCh38/hg38 |
XM_011534800 | chr12:g.132673267_132673268delGTinsAG | c.1369_1370delACinsCT | p.T457L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|