Varaico: Literature-Extracted Genetic Variants

Gene:CRAT

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
1–12 of 1048 variants
21 papers
NM_000755.5
p.I389I
c.1167C>T
15 papers
NM_000755.5
p.P12A
c.34C>G
10 papers
NM_000755.5
p.A140V
c.419C>T
8 papers
NM_000755.5
p.G80R
c.238G>A
7 papers
NM_000755.5
p.Y110Y
c.330C>T
7 papers
NM_000755.5
p.S282G
c.844A>G
6 papers
NM_000755.5
p.V9_V10Splc
c.28-110G>A
6 papers
NM_000755.5
p.P113L
c.338C>T
6 papers
NM_000755.5
p.A140A
c.420C>G
5 papers
NM_000755.5
p.M1T
c.2T>C
5 papers
NM_000755.5
p.R7K
c.20G>A
5 papers
NM_000755.5
p.L83V
c.247C>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."