Varaico: Literature-Extracted Genetic Variants

Gene:PCYT2
Variant:p.H244Y

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_001184917.3
p.H244Y
c.730C>T
Surrounding Variants
1 paper
NM_002861.5
p.I216I
c.648C>A
1 paper
NM_002861.5
p.P211L
c.632C>T
1 paper
NM_002861.5
p.A204_S205insFs
c.612_613insC
1 paper
NM_002861.5
p.I200delFs
c.598delT
1 paper
NM_002861.5
p.S191P
c.571T>C
4 papers
NM_001184917.3
p.H244Y
c.730C>T
2 papers
NM_001184917.3
p.G246R
c.736G>C
NM_002861.5
p.G228R
c.682G>C
2 papers
NM_001184917.3
p.G246R
c.736G>A
NM_002861.5
p.G228R
c.682G>A
2 papers
NM_001184917.3
p.V248E
c.743T>A
NM_002861.5
p.V230E
c.689T>A
1 paper
NM_002861.5
p.E241G
c.722A>G
1 paper
NM_002861.5
p.P243L
c.728C>T
2 papers
NM_002861.5
p.Y244C
c.731A>G
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