Varaico: Literature-Extracted Genetic Variants

Gene:CRAT
Variant:p.R92T

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.R92T
c.275G>C
Surrounding Variants
3 papers
NM_000755.5
p.R92S
c.276G>T
1 paper
NM_000755.5
p.R92W
c.274A>T
2 papers
NM_000755.5
p.A91S
c.271G>T
1 paper
NM_000755.5
p.G86_R90del0
c.257_268del12
1 paper
NM_000755.5
p.R90R
c.270G>A
1 paper
NM_000755.5
p.T94A
c.280A>G
1 paper
NM_000755.5
p.R90Q
c.269G>A
1 paper
NM_000755.5
p.T94T
c.282G>T
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.L87_R89del0
c.261_266del6
3 papers
NM_000755.5
p.E95Q
c.283G>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."