Varaico: Literature-Extracted Genetic Variants

Gene:CRAT
Variant:p.T8T

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.T8T
c.24C>T
Surrounding Variants
1 paper
NM_000755.5
p.V9L
c.25G>T
4 papers
NM_000755.5
p.V9M
c.25G>A
1 paper
NM_000755.5
p.T8N
c.23C>A
1 paper
NM_000755.5
p.T8A
c.22A>G
2 papers
NM_000755.5
p.V9V
c.27G>T
1 paper
NM_000755.5
p.V9V
c.27G>A
1 paper
NM_000755.5
p.R7R
c.21G>A
1 paper
NM_000755.5
p.V9_V10Splc
c.27+1G>T
5 papers
NM_000755.5
p.R7K
c.20G>A
4 papers
NM_000755.5
p.V9_V10Splc
c.27+1G>A
3 papers
NM_000755.5
p.A6A
c.18C>T
1 paper
NM_000755.5
p.A6_R7insFs
c.18_19insAT
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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."