Varaico: Literature-Extracted Genetic Variants

Gene:CRAT
Variant:p.L124L

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
2 papers
NM_000755.5
p.L124L
c.372A>G
Surrounding Variants
1 paper
NM_000755.5
p.P125T
c.373C>A
2 papers
NM_000755.5
p.L124L
c.370C>T
1 paper
NM_000755.5
p.P125L
c.374C>T
1 paper
NM_000755.5
p.M123I
c.369G>C
1 paper
NM_000755.5
p.P125P
c.375C>G
1 paper
NM_000755.5
p.K126E
c.376A>G
2 papers
NM_000755.5
p.M123L
c.367A>T
1 paper
NM_000755.5
p.M123V
c.367A>G
1 paper
NM_000755.5
p.V122A
c.365T>C
1 paper
NM_000755.5
p.Q127*
c.379C>T
1 paper
NM_000755.5
p.Q127K
c.379C>A
1 paper
NM_000755.5
p.V122M
c.364G>A
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."