Varaico: Literature-Extracted Genetic Variants

Gene:CRAT
Variant:p.S46A

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.S46A
c.136T>G
Surrounding Variants
1 paper
NM_000755.5
p.Q45delFs
c.135delC
1 paper
NM_000755.5
p.Q45H
c.135G>C
1 paper
NM_000755.5
p.Q45Q
c.135G>A
1 paper
NM_000755.5
p.S46F
c.137C>T
1 paper
NM_000755.5
p.S46S
c.138C>A
1 paper
NM_000755.5
p.Q45insFs
c.133_134insT
1 paper
NM_000755.5
p.Q44H
c.132G>T
1 paper
NM_000755.5
p.Q44H
c.132G>C
1 paper
NM_000755.5
p.Q44L
c.131A>T
1 paper
NM_000755.5
p.L43L
c.129C>T
1 paper
NM_000755.5
p.L43insFs
c.128_129insT
1 paper
NM_000755.5
p.D48A
c.143A>C
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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."