Varaico: Literature-Extracted Genetic Variants

Gene:CRAT
Variant:p.Y300C

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.Y300C
c.899A>G
Surrounding Variants
1 paper
NM_000755.5
p.Y300S
c.899A>C
1 paper
NM_000755.5
p.V299M
c.895G>A
1 paper
NM_000755.5
p.D298D
c.894C>T
1 paper
NM_000755.5
p.D298E
c.894C>G
1 paper
NM_000755.5
p.D298E
c.894C>A
1 paper
NM_000755.5
p.D298N
c.892G>A
1 paper
NM_000755.5
p.H303Y
c.907C>T
1 paper
NM_000755.5
p.H303R
c.908A>G
1 paper
NM_000755.5
p.E297A
c.890A>C
1 paper
NM_000755.5
p.E297K
c.889G>A
1 paper
NM_000755.5
p.H303H
c.909C>T
1 paper
NM_000755.5
p.S296S
c.888A>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."