Varaico: Literature-Extracted Genetic Variants

Gene:DOLK
Variant:p.S125*

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.S125*
c.374C>G
Surrounding Variants
1 paper
NM_014908.4
p.S125*
c.374C>A
1 paper
NM_014908.4
p.S125delFs
c.374delG
1 paper
NM_014908.4
p.V127A
c.380T>C
1 paper
NM_014908.4
p.V121L
c.361G>C
1 paper
NM_014908.4
p.G118D
c.353G>A
1 paper
NM_014908.4
p.A115V
c.344C>T
1 paper
NM_014908.4
p.I112N
c.335T>A
1 paper
NM_014908.4
p.G111S
c.331G>A
1 paper
NM_014908.4
p.C141Y
c.422G>A
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.E108G
c.323A>G
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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."