Varaico: Literature-Extracted Genetic Variants

Gene:CRAT
Variant:p.L83V

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
5 papers
NM_000755.5
p.L83V
c.247C>G
Surrounding Variants
2 papers
NM_000755.5
p.L83P
c.248T>C
1 paper
NM_000755.5
p.R82P
c.245G>C
1 paper
NM_000755.5
p.L83L
c.249G>A
1 paper
NM_000755.5
p.Q84*
c.250C>T
1 paper
NM_000755.5
p.R82C
c.244C>T
1 paper
NM_000755.5
p.E81_R82insFs
c.243_244insA
1 paper
NM_000755.5
p.E81insFs
c.242_243insAT
1 paper
NM_000755.5
p.E81E
c.243G>A
1 paper
NM_000755.5
p.Q84L
c.251A>T
1 paper
NM_000755.5
p.Q84R
c.251A>G
1 paper
NM_000755.5
p.Q84P
c.251A>C
1 paper
NM_000755.5
p.G80insFs
c.238_239insG
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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."