Varaico: Literature-Extracted Genetic Variants

Gene:CRAT
Variant:p.L21L

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.L21L
c.63G>A
Surrounding Variants
2 papers
NM_000755.5
p.L21F
c.63G>T
2 papers
NM_000755.5
p.L21F
c.63G>C
1 paper
NM_000755.5
p.L21*
c.62T>A
1 paper
NM_000755.5
p.M22insFs
c.65_66insAT
2 papers
NM_000755.5
p.L21M
c.61T>A
1 paper
NM_000755.5
p.S20delFs
c.60delG
1 paper
NM_000755.5
p.M22I
c.66G>A
1 paper
NM_000755.5
p.S20S
c.60C>T
2 papers
NM_000755.5
p.K23E
c.67A>G
1 paper
NM_000755.5
p.S20T
c.58T>A
4 papers
NM_000755.5
p.K23R
c.68A>G
1 paper
NM_000755.5
p.F19C
c.56T>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."