Varaico: Literature-Extracted Genetic Variants

Gene:CRAT
Variant:p.L309M

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.L309M
c.925C>A
Surrounding Variants
1 paper
NM_000755.5
p.L309insFs
c.926_927insAG
1 paper
NM_000755.5
p.L309P
c.926T>C
1 paper
NM_000755.5
p.M308I
c.924G>C
1 paper
NM_000755.5
p.M308T
c.923T>C
1 paper
NM_000755.5
p.M308V
c.922A>G
1 paper
NM_000755.5
p.H310insFs
c.929_930insT
1 paper
NM_000755.5
p.G311A
c.932G>C
1 paper
NM_000755.5
p.G311G
c.933G>A
4 papers
NM_000755.5
p.G312G
c.936C>T
1 paper
NM_000755.5
p.A305T
c.913G>A
1 paper
NM_000755.5
p.G313A
c.938G>C
4 papers
NM_000755.5
p.G313D
c.938G>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."