Varaico: Literature-Extracted Genetic Variants

Gene:DOLK

DOLK

107 papers

RefSeq Summary

The protein encoded by this gene catalyzes the CTP-mediated phosphorylation of dolichol, and is involved in the synthesis of Dol-P-Man, which is an essential glycosyl carrier lipid for C- and O-mannos...

Pfam Domains

DOLKaa 1–412UCSCDolichol kinase
DOLKaa 410–479UCSCDolichol kinase

Gene Aliases

HGNC Name

dolichol kinase

HGNC Alias Symbols

KIAA1094; DK1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 121 variants
8 papers
NM_014908.4
p.Y441S
c.1322A>C
7 papers
NM_014908.4
p.C99S
c.295T>A
7 papers
NM_014908.4
p.Y360C
c.1079A>G
6 papers
NM_014908.4
p.M1I
c.3G>A
6 papers
NM_014908.4
p.H408D
c.1222C>G
5 papers
NM_014908.4
p.M1I
c.3G>C
5 papers
NM_014908.4
p.C99S
c.296G>C
5 papers
NM_014908.4
p.W304C
c.912G>T
5 papers
NM_014908.4
p.W304C
c.912G>C
4 papers
NM_014908.4
p.M1T
c.2T>C
4 papers
NM_014908.4
p.M1I
c.3G>T
4 papers
NM_014908.4
p.R211C
c.631C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."