Varaico: Literature-Extracted Genetic Variants

Gene:DOLK
Variant:p.A320D

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
Selected Variant
1 paper
NM_014908.4
p.A320D
c.959C>A
Surrounding Variants
1 paper
NM_014908.4
p.S323_S324insT
c.967_971ins3
2 papers
NM_014908.4
p.Y317*
c.951C>G
4 papers
NM_014908.4
p.Y317*
c.951C>A
1 paper
NM_014908.4
p.S324P
c.970T>C
1 paper
NM_014908.4
p.T309delFs
c.927delG
1 paper
NM_014908.4
p.A308V
c.923C>T
2 papers
NM_014908.4
p.T334S
c.1000A>T
2 papers
NM_014908.4
p.T334S
c.1001C>G
5 papers
NM_014908.4
p.W304C
c.912G>T
5 papers
NM_014908.4
p.W304C
c.912G>C
1 paper
NM_014908.4
p.A302V
c.905C>T
1 paper
NM_014908.4
p.R297H
c.890G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."