Varaico: Literature-Extracted Genetic Variants

Gene:CRAT
Variant:p.D131D

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.D131D
c.393C>T
Surrounding Variants
1 paper
NM_000755.5
p.L132L
c.394C>T
2 papers
NM_000755.5
p.L132V
c.394C>G
1 paper
NM_000755.5
p.L132M
c.394C>A
1 paper
NM_000755.5
p.D131delFs
c.391delC
2 papers
NM_000755.5
p.L132P
c.395T>C
1 paper
NM_000755.5
p.D131H
c.391G>C
1 paper
NM_000755.5
p.D131N
c.391G>A
1 paper
NM_000755.5
p.D131fs
c.391_392fs
1 paper
NM_000755.5
p.V130V
c.390G>T
2 papers
NM_000755.5
p.V130A
c.389T>C
1 paper
NM_000755.5
p.Q133*
c.397C>T
1 paper
NM_000755.5
p.Q133_G134insT
c.397_401ins3
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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."