Varaico: Literature-Extracted Genetic Variants

Gene:CRAT
Variant:p.E88V

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
2 papers
NM_000755.5
p.E88V
c.263A>T
Surrounding Variants
1 paper
NM_000755.5
p.E88G
c.263A>G
1 paper
NM_000755.5
p.E88insFs
c.263_264insCC
1 paper
NM_000755.5
p.L87delFs
c.261delC
5 papers
NM_000755.5
p.E88K
c.262G>A
1 paper
NM_000755.5
p.E88E
c.264G>A
2 papers
NM_000755.5
p.R89C
c.265C>T
1 paper
NM_000755.5
p.R89G
c.265C>G
1 paper
NM_000755.5
p.E88_R89insFs
c.264_265insG
1 paper
NM_000755.5
p.L87_R89del0
c.261_266del6
2 papers
NM_000755.5
p.R90W
c.268C>T
1 paper
NM_000755.5
p.R89delFs
c.266_267delAC
1 paper
NM_000755.5
p.G86V
c.257G>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."