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 | POLD1 |
Variant | K486N |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | POLD1 K486N does not lie within any known functional domains of the Pold1 protein (UniProt.org). K486N has been identified in the scientific literature (PMID: 34954152), but has not been biochemically characterized and therefore, its effect on Pold1 protein function is unknown (PubMed, Nov 2023). |
Associated Drug Resistance | |
Category Variants Paths |
POLD1 mutant POLD1 K486N |
Transcript | NM_002691.4 |
gDNA | chr19:g.50406481G>C |
cDNA | c.1458G>C |
Protein | p.K486N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017026881.1 | chr19:g.50406481G>C | c.1458G>C | p.K486N | RefSeq | GRCh38/hg38 |
NM_001256849.1 | chr19:g.50406481G>C | c.1458G>C | p.K486N | RefSeq | GRCh38/hg38 |
XM_017026882.3 | chr19:g.50406481G>C | c.1458G>C | p.K486N | RefSeq | GRCh38/hg38 |
XM_017026882.2 | chr19:g.50406481G>C | c.1458G>C | p.K486N | RefSeq | GRCh38/hg38 |
XM_011527038.1 | chr19:g.50406481G>C | c.1458G>C | p.K486N | RefSeq | GRCh38/hg38 |
XM_047438949.1 | chr19:g.50406481G>C | c.1458G>C | p.K486N | RefSeq | GRCh38/hg38 |
XM_047438947.1 | chr19:g.50406481G>C | c.1458G>C | p.K486N | RefSeq | GRCh38/hg38 |
XM_047438946.1 | chr19:g.50406481G>C | c.1458G>C | p.K486N | RefSeq | GRCh38/hg38 |
XM_005259008.4 | chr19:g.50406481G>C | c.1458G>C | p.K486N | RefSeq | GRCh38/hg38 |
NM_001256849.1 | chr19:g.50406481G>C | c.1458G>C | p.K486N | RefSeq | GRCh38/hg38 |
XM_011527038.2 | chr19:g.50406481G>C | c.1458G>C | p.K486N | RefSeq | GRCh38/hg38 |
NM_002691.3 | chr19:g.50406481G>C | c.1458G>C | p.K486N | RefSeq | GRCh38/hg38 |
NM_001308632.1 | chr19:g.50406481G>C | c.1458G>C | p.K486N | RefSeq | GRCh38/hg38 |
NM_002691.4 | chr19:g.50406481G>C | c.1458G>C | p.K486N | RefSeq | GRCh38/hg38 |
XM_005259008.5 | chr19:g.50406481G>C | c.1458G>C | p.K486N | RefSeq | GRCh38/hg38 |
XM_047438948.1 | chr19:g.50406481G>C | c.1458G>C | p.K486N | RefSeq | GRCh38/hg38 |
XM_047438950.1 | chr19:g.50406481G>C | c.1458G>C | p.K486N | RefSeq | GRCh38/hg38 |
NM_001308632.1 | chr19:g.50406481G>C | c.1458G>C | p.K486N | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|