Varaico: Literature-Extracted Genetic Variants

Gene:CRAT
Variant:p.K29R

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.K29R
c.86A>G
Surrounding Variants
1 paper
NM_000755.5
p.K29M
c.86A>T
2 papers
NM_000755.5
p.K29T
c.86A>C
1 paper
NM_000755.5
p.K29K
c.87G>A
2 papers
NM_000755.5
p.K29*
c.85A>T
1 paper
NM_000755.5
p.F28delFs
c.84delG
2 papers
NM_000755.5
p.A30P
c.88G>C
2 papers
NM_000755.5
p.A30T
c.88G>A
2 papers
NM_000755.5
p.A30V
c.89C>T
1 paper
NM_000755.5
p.A30delFs
c.88delC
1 paper
NM_000755.5
p.F28L
c.82T>C
1 paper
NM_000755.5
p.S26_R27insFs
c.78_79insC
3 papers
NM_000755.5
p.R27H
c.80G>A
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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."