Varaico: Literature-Extracted Genetic Variants

Gene:DOLK
Variant:p.S68C

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.S68C
c.202A>T
Surrounding Variants
1 paper
NM_014908.4
p.V70I
c.208G>A
1 paper
NM_014908.4
p.Q66*
c.196C>T
1 paper
NM_014908.4
p.Q72E
c.214C>G
1 paper
NM_014908.4
p.A53_K59del0
c.159_176del18
1 paper
NM_014908.4
p.N78I
c.233A>T
1 paper
NM_014908.4
p.Y55*
c.165C>G
1 paper
NM_014908.4
p.Y55*
c.165C>A
1 paper
NM_014908.4
p.F54L
c.162C>A
1 paper
NM_014908.4
p.L82S
c.245T>C
1 paper
NM_014908.4
p.P83S
c.247C>T
1 paper
NM_014908.4
p.S85F
c.254C>T
1 paper
NM_014908.4
p.C45R
c.133T>C
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