Varaico: Literature-Extracted Genetic Variants

Gene:DOLK
Variant:p.Y441S

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
8 papers
NM_014908.4
p.Y441S
c.1322A>C
Surrounding Variants
1 paper
NM_014908.4
p.P440S
c.1318C>T
1 paper
NM_014908.4
p.G443D
c.1328G>A
2 papers
NM_014908.4
p.G448R
c.1342G>C
2 papers
NM_014908.4
p.G448S
c.1342G>A
1 paper
NM_014908.4
p.G434R
c.1300G>C
1 paper
NM_014908.4
p.G434R
c.1300G>A
1 paper
NM_014908.4
p.G433R
c.1297G>C
1 paper
NM_014908.4
p.G430D
c.1289G>A
2 papers
NM_014908.4
p.C426Y
c.1277G>A
3 papers
NM_014908.4
p.G458S
c.1372G>A
4 papers
NM_014908.4
p.G458V
c.1373G>T
1 paper
NM_014908.4
p.P423R
c.1268C>G
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."