Varaico: Literature-Extracted Genetic Variants

Gene:DOLK
Variant:p.T364P

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.T364P
c.1090A>C
Surrounding Variants
7 papers
NM_014908.4
p.Y360C
c.1079A>G
1 paper
NM_014908.4
p.R356W
c.1066C>T
1 paper
NM_014908.4
p.R380H
c.1139G>A
1 paper
NM_014908.4
p.T387A
c.1159A>G
1 paper
NM_014908.4
p.L392fs
c.1174_1175fs
2 papers
NM_014908.4
p.T334S
c.1001C>G
2 papers
NM_014908.4
p.T334S
c.1000A>T
2 papers
NM_014908.4
p.L394P
c.1181T>C
1 paper
NM_014908.4
p.P403Q
c.1208C>A
1 paper
NM_014908.4
p.S324P
c.970T>C
1 paper
NM_014908.4
p.S323_S324insT
c.967_971ins3
1 paper
NM_014908.4
p.A320D
c.959C>A
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