Varaico: Literature-Extracted Genetic Variants

Gene:CROT
Variant:p.A74fs

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.A74fs
c.220_221fs
Surrounding Variants
2 papers
NM_021151.4
p.A74_K75insFs
c.222_223insG
1 paper
NM_021151.4
p.K75fs
c.223_224fs
1 paper
NM_021151.4
p.K49M
c.146A>T
1 paper
NM_021151.4
p.N102T
c.305A>C
1 paper
NM_021151.4
p.N102S
c.305A>G
1 paper
NM_021151.4
p.N102_F103insFs
c.306_307insG
1 paper
NM_021151.4
p.W136C
c.408G>C
1 paper
NM_021151.4
p.W136C
c.408G>T
1 paper
NM_021151.4
p.T172S
c.514A>T
1 paper
NM_021151.4
p.T172S
c.515C>G
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."