Varaico: Literature-Extracted Genetic Variants

Gene:CROT
Variant:p.A397V

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.A397V
c.1190C>T
Surrounding Variants
1 paper
NM_021151.4
p.S403Y
c.1208C>A
1 paper
NM_021151.4
p.L422R
c.1265T>G
1 paper
NM_021151.4
p.Q425*
c.1273C>T
1 paper
NM_021151.4
p.Y429H
c.1285T>C
2 papers
NM_021151.4
p.H432R
c.1295A>G
1 paper
NM_021151.4
p.R389R
c.1165A>C
1 paper
NM_021151.4
p.K375E
c.1123A>G
1 paper
NM_021151.4
p.I369I
c.1107T>C
1 paper
NM_021151.4
p.K354N
c.1062G>C
1 paper
NM_021151.4
p.K354N
c.1062G>T
1 paper
NM_021151.4
p.M335V
c.1003A>G
1 paper
NM_021151.4
p.Y311C
c.932A>G
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