Varaico: Literature-Extracted Genetic Variants

Gene:PCYT2
Variant:p.V129I

PCYT2

37 papers

RefSeq Summary

This gene encodes an enzyme that catalyzes the formation of CDP-ethanolamine from CTP and phosphoethanolamine in the Kennedy pathway of phospholipid synthesis. Alternative splicing results in multiple...

Pfam Domains

CTP_transf_likeaa 26–152UCSCCytidylyltransferase-like
CTP_transf_likeaa 217–339UCSCCytidylyltransferase-like

Gene Aliases

HGNC Name

phosphate cytidylyltransferase 2, ethanolamine

HGNC Alias Symbol

ET

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002861.5
p.V129I
c.385G>A
Surrounding Variants
1 paper
NM_002861.5
p.T119A
c.355A>G
1 paper
NM_002861.5
p.D115Y
c.343G>T
1 paper
NM_002861.5
p.N114Splc
c.340+5G>A
1 paper
NM_002861.5
p.E100Q
c.298G>C
1 paper
NM_002861.5
p.D87A
c.260A>C
1 paper
NM_002861.5
p.I83_K84insFs
c.249_250insT
1 paper
NM_002861.5
p.E61*
c.181G>T
1 paper
NM_002861.5
p.E137*
c.409G>T
1 paper
NM_002861.5
p.R140H
c.419G>A
1 paper
NM_002861.5
p.T141M
c.422C>T
1 paper
NM_002861.5
p.D148A
c.443A>C
1 paper
NM_002861.5
p.M153insFs
c.458dupT
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