Varaico: Literature-Extracted Genetic Variants

Gene:DOLK
Variant:p.R211C

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
4 papers
NM_014908.4
p.R211C
c.631C>T
Surrounding Variants
1 paper
NM_014908.4
p.L213P
c.638T>C
1 paper
NM_014908.4
p.G220R
c.658G>C
1 paper
NM_014908.4
p.G220R
c.658G>A
1 paper
NM_014908.4
p.G192S
c.574G>A
1 paper
NM_014908.4
p.V231I
c.691G>A
3 papers
NM_014908.4
p.M234V
c.700A>G
1 paper
NM_014908.4
p.V235I
c.703G>A
1 paper
NM_014908.4
p.S242N
c.725G>A
1 paper
NM_014908.4
p.Y176delFs
c.527_528delAT
1 paper
NM_014908.4
p.Y176C
c.527A>G
1 paper
NM_014908.4
p.V246A
c.737T>C
1 paper
NM_014908.4
p.L171delFs
c.511delG
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