Varaico: Literature-Extracted Genetic Variants

Gene:CROT
Variant:p.E478D

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.E478D
c.1434G>C
Surrounding Variants
1 paper
NM_021151.4
p.E478D
c.1434G>T
1 paper
NM_021151.4
p.G502R
c.1504G>C
1 paper
NM_021151.4
p.R505C
c.1513C>T
1 paper
NM_021151.4
p.A514T
c.1540G>A
1 paper
NM_021151.4
p.K532Q
c.1594A>C
1 paper
NM_021151.4
p.S533R
c.1597A>C
1 paper
NM_021151.4
p.S533R
c.1599C>A
1 paper
NM_021151.4
p.S533R
c.1599C>G
2 papers
NM_021151.4
p.S533R
c.1599C>A
1 paper
NM_021151.4
p.V546F
c.1636G>T
1 paper
NM_021151.4
p.D572H
c.1714G>C
1 paper
NM_021151.4
p.N475Y
c.1423A>T
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."