Varaico: Literature-Extracted Genetic Variants

Gene:CRAT
Variant:p.G121V

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.G121V
c.362G>T
Surrounding Variants
1 paper
NM_000755.5
p.G121A
c.362G>C
1 paper
NM_000755.5
p.G121D
c.362G>A
2 papers
NM_000755.5
p.G121S
c.361G>A
1 paper
NM_000755.5
p.G121delFs
c.362delC
1 paper
NM_000755.5
p.V122M
c.364G>A
1 paper
NM_000755.5
p.V122A
c.365T>C
1 paper
NM_000755.5
p.P120S
c.358C>T
1 paper
NM_000755.5
p.P120T
c.358C>A
2 papers
NM_000755.5
p.S119S
c.357C>T
1 paper
NM_000755.5
p.S119_P120insFs
c.357_358insG
1 paper
NM_000755.5
p.S119R
c.357C>A
2 papers
NM_000755.5
p.M123L
c.367A>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."