Varaico: Literature-Extracted Genetic Variants

Gene:CEPT1
Variant:p.D158A

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.D158A
c.473A>C
Surrounding Variants
1 paper
NM_006090.5
p.L160I
c.478C>A
1 paper
NM_006090.5
p.D154A
c.461A>C
1 paper
NM_006090.5
p.F153insFs
c.458dupT
1 paper
NM_006090.5
p.E151A
c.452A>C
1 paper
NM_006090.5
p.D136A
c.407A>C
2 papers
NM_006090.5
p.A121T
c.361G>A
2 papers
NM_006090.5
p.I120V
c.358A>G
1 paper
NM_006090.5
p.A114G
c.341C>G
1 paper
NM_006090.5
p.T169N
c.506C>A
1 paper
NM_006090.5
p.N178fs
c.532_533fs
2 papers
NM_006090.5
p.F183fs
c.547_548fs
1 paper
NM_006090.5
p.T200delFs
c.598delA
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."