Varaico: Literature-Extracted Genetic Variants

Gene:CEPT1

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
1–12 of 59 variants
2 papers
NM_006090.5
p.G12R
c.34G>A
2 papers
NM_006090.5
p.G12R
c.34G>C
2 papers
NM_006090.5
p.T40I
c.119C>T
2 papers
NM_006090.5
p.E52K
c.154G>A
2 papers
NM_006090.5
p.I120V
c.358A>G
2 papers
NM_006090.5
p.A121T
c.361G>A
2 papers
NM_006090.5
p.F183fs
c.547_548fs
1 paper
NM_006090.5
p.H4L
c.11A>T
1 paper
NM_006090.5
p.S14T
c.40T>A
1 paper
NM_006090.5
p.G23R
c.67G>A
1 paper
NM_006090.5
p.G23R
c.67G>C
1 paper
NM_006090.5
p.H24Q
c.72T>A
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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."