Varaico: Literature-Extracted Genetic Variants

Gene:CROT
Variant:p.Y311C

CROT

91 papers

RefSeq Summary

This gene encodes a member of the carnitine/choline acetyltransferase family. The encoded protein converts 4,8-dimethylnonanoyl-CoA to its corresponding carnitine ester. This transesterification occur...

Pfam Domains

Carn_acyltransfaa 23–595UCSCCholine/Carnitine o-acyltransferase

Gene Aliases

HGNC Name

carnitine O-octanoyltransferase

HGNC Alias Symbol

COT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_021151.4
p.Y311C
c.932A>G
Surrounding Variants
1 paper
NM_021151.4
p.W306C
c.918G>C
1 paper
NM_021151.4
p.W306C
c.918G>T
1 paper
NM_021151.4
p.W306_G307insG
c.916_920ins3
1 paper
NM_021151.4
p.R305H
c.914G>A
1 paper
NM_021151.4
p.T303T
c.909A>G
1 paper
NM_021151.4
p.V275V
c.825A>G
1 paper
NM_021151.4
p.R252P
c.755G>C
1 paper
NM_021151.4
p.W248L
c.743G>T
5 papers
NM_021151.4
p.R245Q
c.734G>A
1 paper
NM_021151.4
p.R245*
c.733C>T
1 paper
NM_021151.4
p.E243E
c.729G>A
2 papers
NM_021151.4
p.T222_Y223insG
c.664_668ins3
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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."