Varaico: Literature-Extracted Genetic Variants

Gene:CRAT
Variant:p.R137Splc

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.R137Splc
c.410+5G>A
Surrounding Variants
1 paper
NM_000755.5
p.R137Splc
c.410+5G>C
2 papers
NM_000755.5
p.R137Splc
c.410+2T>C
1 paper
NM_000755.5
p.R137Splc
c.410+1G>A
1 paper
NM_000755.5
p.R137Q
c.410G>A
1 paper
NM_000755.5
p.L136L
c.408C>G
1 paper
NM_000755.5
p.L136L
c.408C>A
1 paper
NM_000755.5
p.Q135H
c.405G>C
2 papers
NM_000755.5
p.Q135delFs
c.404delT
2 papers
NM_000755.5
p.Q135*
c.403C>T
2 papers
NM_000755.5
p.G134G
c.402T>C
2 papers
NM_000755.5
p.G134V
c.401G>T
1 paper
NM_000755.5
p.G134A
c.401G>C
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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."