Varaico: Literature-Extracted Genetic Variants

Gene:CRAT
Variant:p.V58V

CRAT

2,591 papers

RefSeq Summary

This gene encodes carnitine O-acetyltransferase, a member of the carnitine acyltransferase family and a key metabolic pathway enzyme which plays an important role in energy homeostasis and fat metabol...

Pfam Domains

Carn_acyltransfaa 38–585UCSCCholine/Carnitine o-acyltransferase

Gene Aliases

HGNC Name

carnitine O-acetyltransferase

HGNC Alias Symbol

CAT1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000755.5
p.V58V
c.174G>C
Surrounding Variants
1 paper
NM_000755.5
p.V58E
c.173T>A
1 paper
NM_000755.5
p.S59N
c.176G>A
1 paper
NM_000755.5
p.E60*
c.178G>T
1 paper
NM_000755.5
p.E60K
c.178G>A
1 paper
NM_000755.5
p.E60A
c.179A>C
1 paper
NM_000755.5
p.P56insFs
c.167_168insC
1 paper
NM_000755.5
p.E60E
c.180G>A
1 paper
NM_000755.5
p.E61insFs
c.181_182insT
1 paper
NM_000755.5
p.P56A
c.166C>G
3 papers
NM_000755.5
p.E61V
c.182A>T
1 paper
NM_000755.5
p.E61G
c.182A>G
1 paper
NM_000755.5
p.E61E
c.183G>A
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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."