Varaico: Literature-Extracted Genetic Variants

Gene:DOLK
Variant:p.C99S

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
7 papers
NM_014908.4
p.C99S
c.295T>A
Surrounding Variants
5 papers
NM_014908.4
p.C99S
c.296G>C
1 paper
NM_014908.4
p.R98delFs
c.292_293delCG
1 paper
NM_014908.4
p.E108G
c.323A>G
1 paper
NM_014908.4
p.E108insFs
c.323_324insT
1 paper
NM_014908.4
p.E108D
c.324G>T
1 paper
NM_014908.4
p.E108D
c.324G>C
1 paper
NM_014908.4
p.G111S
c.331G>A
1 paper
NM_014908.4
p.I112N
c.335T>A
1 paper
NM_014908.4
p.S85F
c.254C>T
1 paper
NM_014908.4
p.P83S
c.247C>T
1 paper
NM_014908.4
p.A115V
c.344C>T
1 paper
NM_014908.4
p.L82S
c.245T>C
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