Varaico: Literature-Extracted Genetic Variants

Gene:DOLK
Variant:p.S256F

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
2 papers
NM_014908.4
p.S256F
c.767C>T
Surrounding Variants
1 paper
NM_014908.4
p.S256P
c.766T>C
1 paper
NM_014908.4
p.S256S
c.768C>G
1 paper
NM_014908.4
p.L266L
c.796C>T
1 paper
NM_014908.4
p.V246A
c.737T>C
1 paper
NM_014908.4
p.S242N
c.725G>A
1 paper
NM_014908.4
p.R277W
c.829C>T
1 paper
NM_014908.4
p.R277Q
c.830G>A
1 paper
NM_014908.4
p.V235I
c.703G>A
3 papers
NM_014908.4
p.M234V
c.700A>G
1 paper
NM_014908.4
p.V231I
c.691G>A
1 paper
NM_014908.4
p.L287F
c.859C>T
1 paper
NM_014908.4
p.G220R
c.658G>C
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."