Varaico: Literature-Extracted Genetic Variants

Gene:PCYT2
Variant:p.C30G

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
4 papers
NM_002861.5
p.C30G
c.88T>G
Surrounding Variants
1 paper
NM_002861.5
p.G29del1
c.85_86delGCC
1 paper
NM_002861.5
p.C30Y
c.89G>A
1 paper
NM_002861.5
p.C30Splc
c.89+10G>T
1 paper
NM_002861.5
p.R21C
c.61C>T
1 paper
NM_002861.5
p.G10G
c.30C>G
1 paper
NM_002861.5
p.I2V
c.4A>G
1 paper
NM_002861.5
p.C30Splc
c.89+309C>A
4 papers
NM_002861.5
p.C30G
c.88T>G
1 paper
NM_002861.5
p.C30Y
c.89G>A
1 paper
NM_002861.5
p.H35Y
c.103C>T
1 paper
NM_002861.5
p.S39Y
c.116C>A
1 paper
NM_002861.5
p.R43L
c.128G>T
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