Varaico: Literature-Extracted Genetic Variants

Gene:CRAT
Variant:p.L13V

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.L13V
c.37C>G
Surrounding Variants
1 paper
NM_000755.5
p.L13L
c.37C>T
1 paper
NM_000755.5
p.L13M
c.37C>A
1 paper
NM_000755.5
p.L13insFs
c.38_39insAT
1 paper
NM_000755.5
p.L13R
c.38T>G
1 paper
NM_000755.5
p.L13P
c.38T>C
1 paper
NM_000755.5
p.L13Q
c.38T>A
1 paper
NM_000755.5
p.L13_G14insFs
c.39_40insAT
1 paper
NM_000755.5
p.L13L
c.39G>C
1 paper
NM_000755.5
p.L13L
c.39G>A
1 paper
NM_000755.5
p.P12L
c.35C>T
1 paper
NM_000755.5
p.G14_F15insT
c.40_44ins3
1 paper
NM_000755.5
p.G14S
c.40G>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."