Varaico: Literature-Extracted Genetic Variants

Gene:CRAT
Variant:p.A53T

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.A53T
c.157G>A
Surrounding Variants
3 papers
NM_000755.5
p.A53V
c.158C>T
2 papers
NM_000755.5
p.A53E
c.158C>A
1 paper
NM_000755.5
p.A53A
c.159G>A
1 paper
NM_000755.5
p.K52R
c.155A>G
1 paper
NM_000755.5
p.L54M
c.160C>A
1 paper
NM_000755.5
p.K52E
c.154A>G
2 papers
NM_000755.5
p.L54Q
c.161T>A
4 papers
NM_000755.5
p.L51P
c.152T>C
1 paper
NM_000755.5
p.L54L
c.162G>A
2 papers
NM_000755.5
p.L51L
c.151C>T
1 paper
NM_000755.5
p.Y50Y
c.150C>T
1 paper
NM_000755.5
p.Y50F
c.149A>T
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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."