Varaico: Literature-Extracted Genetic Variants

Gene:PCYT2
Variant:p.T141M

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.T141M
c.422C>T
Surrounding Variants
1 paper
NM_002861.5
p.R140H
c.419G>A
1 paper
NM_002861.5
p.E137*
c.409G>T
1 paper
NM_002861.5
p.D148A
c.443A>C
1 paper
NM_002861.5
p.M153insFs
c.458dupT
2 papers
NM_002861.5
p.D175fs
c.523_524fs
2 papers
NM_002861.5
p.D175_S176delFs
c.524_527del4
1 paper
NM_002861.5
p.V129I
c.385G>A
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.S191P
c.571T>C
1 paper
NM_002861.5
p.I200delFs
c.598delT
1 paper
NM_002861.5
p.A204_S205insFs
c.612_613insC
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