Varaico: Literature-Extracted Genetic Variants

Gene:PCYT2
Variant:p.D303delFs

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
2 papers
NM_002861.5
p.D303delFs
c.907delC
Surrounding Variants
1 paper
NM_002861.5
p.V305V
c.915G>C
1 paper
NM_002861.5
p.Q323_E324Splc
c.969+5G>A
4 papers
NM_001184917.3
p.K319N
c.957G>T
4 papers
NM_001184917.3
p.K319N
c.957G>C
1 paper
NM_002861.5
p.E295E
c.885G>A
1 paper
NM_002861.5
p.A294G
c.881C>G
1 paper
NM_002861.5
p.V292F
c.874G>T
2 papers
NM_001184917.3
p.P307L
c.920C>T
2 papers
NM_001184917.3
p.V303delFs
c.907delC
1 paper
NM_002861.5
p.E283K
c.847G>A
1 paper
NM_002861.5
p.I330delFs
c.990delG
1 paper
NM_002861.5
p.F331F
c.993C>T
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