Varaico: Literature-Extracted Genetic Variants

Gene:DOLK
Variant:p.I419S

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
2 papers
NM_014908.4
p.I419S
c.1256T>G
Surrounding Variants
1 paper
NM_014908.4
p.I419M
c.1257C>G
3 papers
NM_014908.4
p.L421P
c.1262T>C
1 paper
NM_014908.4
p.P423R
c.1268C>G
2 papers
NM_014908.4
p.C426Y
c.1277G>A
1 paper
NM_014908.4
p.Y410H
c.1228T>C
1 paper
NM_014908.4
p.G430D
c.1289G>A
6 papers
NM_014908.4
p.H408D
c.1222C>G
1 paper
NM_014908.4
p.G433R
c.1297G>C
1 paper
NM_014908.4
p.G434R
c.1300G>C
1 paper
NM_014908.4
p.G434R
c.1300G>A
1 paper
NM_014908.4
p.P403Q
c.1208C>A
1 paper
NM_014908.4
p.P440S
c.1318C>T
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