Gene Variant Detail

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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

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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

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References