Varaico: Literature-Extracted Genetic Variants

Gene:CROT
Variant:p.M1T

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.M1T
c.2T>C
Surrounding Variants
1 paper
NM_021151.4
p.L5insFs
c.14dupT
2 papers
NM_021151.4
p.R12*
c.34C>T
1 paper
NM_021151.4
p.P21delFs
c.61delC
1 paper
NM_021151.4
p.P21fs
c.61_62fs
1 paper
NM_021151.4
p.P24insFs
c.72dupT
1 paper
NM_021151.4
p.V25A
c.74T>C
1 paper
NM_021151.4
p.L32fs
c.94_95fs
1 paper
NM_021151.4
p.V39Splc
c.116-3108A>G
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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."