Varaico: Literature-Extracted Genetic Variants

Gene:CRAT
Variant:p.Q133L

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.Q133L
c.398A>T
Surrounding Variants
2 papers
NM_000755.5
p.Q133P
c.398A>C
1 paper
NM_000755.5
p.Q133*
c.397C>T
1 paper
NM_000755.5
p.Q133_G134insT
c.397_401ins3
2 papers
NM_000755.5
p.G134S
c.400G>A
2 papers
NM_000755.5
p.L132P
c.395T>C
2 papers
NM_000755.5
p.G134V
c.401G>T
1 paper
NM_000755.5
p.G134A
c.401G>C
2 papers
NM_000755.5
p.G134G
c.402T>C
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
2 papers
NM_000755.5
p.Q135*
c.403C>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."