Varaico: Literature-Extracted Genetic Variants

Gene:PCYT2
Variant:p.Q377*

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.Q377*
c.1129C>T
Surrounding Variants
1 paper
NM_002861.5
p.E367A
c.1100A>C
1 paper
NM_001184917.3
p.R377Q
c.1130G>A
7 papers
NM_001184917.3
p.R377*
c.1129C>T
NM_002861.5
p.R359*
c.1075C>T
2 papers
NM_001184917.3
p.R371Splc
c.1112+1G>A
1 paper
NM_002861.5
p.G337G
c.1011C>T
1 paper
NM_002861.5
p.F331F
c.993C>T
1 paper
NM_002861.5
p.I330delFs
c.990delG
1 paper
NM_002861.5
p.Q323_E324Splc
c.969+5G>A
1 paper
NM_002861.5
p.V305V
c.915G>C
2 papers
NM_002861.5
p.D303delFs
c.907delC
4 papers
NM_001184917.3
p.K319N
c.957G>T
4 papers
NM_001184917.3
p.K319N
c.957G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."