Varaico: Literature-Extracted Genetic Variants

Gene:CRAT
Variant:p.L38L

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.L38L
c.112C>T
Surrounding Variants
1 paper
NM_000755.5
p.R37R
c.111G>T
1 paper
NM_000755.5
p.R37R
c.111G>A
1 paper
NM_000755.5
p.L38L
c.114G>A
1 paper
NM_000755.5
p.R37Q
c.110G>A
1 paper
NM_000755.5
p.R37G
c.109C>G
1 paper
NM_000755.5
p.P39L
c.116C>T
2 papers
NM_000755.5
p.P39R
c.116C>G
1 paper
NM_000755.5
p.P39insFs
c.116_117insTA
1 paper
NM_000755.5
p.P39H
c.116C>A
1 paper
NM_000755.5
p.P36insFs
c.106_107insC
1 paper
NM_000755.5
p.L35_P36del1
c.105_107delGGC
3 papers
NM_000755.5
p.P36R
c.107C>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."