Varaico: Literature-Extracted Genetic Variants

Gene:CRAT
Variant:p.A140A

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
6 papers
NM_000755.5
p.A140A
c.420C>G
Surrounding Variants
10 papers
NM_000755.5
p.A140V
c.419C>T
1 paper
NM_000755.5
p.K141*
c.421A>T
1 paper
NM_000755.5
p.K141insFs
c.421_422insG
1 paper
NM_000755.5
p.K141R
c.422A>G
1 paper
NM_000755.5
p.A139D
c.416C>A
1 paper
NM_000755.5
p.A139T
c.415G>A
1 paper
NM_000755.5
p.L142L
c.426C>G
1 paper
NM_000755.5
p.I143F
c.427A>T
1 paper
NM_000755.5
p.I143L
c.427A>C
1 paper
NM_000755.5
p.L142insFs
c.426dupC
1 paper
NM_000755.5
p.I143T
c.428T>C
1 paper
NM_000755.5
p.I143_E144ins1
c.429_430insGCA
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."