Varaico: Literature-Extracted Genetic Variants

Gene:CEPT1
Variant:p.R50W

CEPT1

41 papers

RefSeq Summary

This gene codes for a choline/ethanolaminephosphotransferase, which functions in the synthesis of choline- or ethanolamine- containing phospholipids. Alternative splicing results in multiple transcrip...

Pfam Domains

CDP-OH_P_transfaa 82–259UCSCCDP-alcohol phosphatidyltransferase

Gene Aliases

HGNC Name

choline/ethanolamine phosphotransferase 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006090.5
p.R50W
c.148C>T
Surrounding Variants
2 papers
NM_006090.5
p.E52K
c.154G>A
1 paper
NM_006090.5
p.R55S
c.165A>T
1 paper
NM_006090.5
p.Y56*
c.168T>A
2 papers
NM_006090.5
p.T40I
c.119C>T
1 paper
NM_006090.5
p.T40A
c.118A>G
1 paper
NM_006090.5
p.P39Q
c.116C>A
1 paper
NM_006090.5
p.R61Q
c.182G>A
1 paper
NM_006090.5
p.E65A
c.194A>C
1 paper
NM_006090.5
p.N33D
c.97A>G
1 paper
NM_006090.5
p.V31E
c.92T>A
1 paper
NM_006090.5
p.H24Q
c.72T>A
1 paper
NM_006090.5
p.G23R
c.67G>A
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