Varaico: Literature-Extracted Genetic Variants

Gene:CRAT
Variant:p.N272K

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.N272K
c.816C>G
Surrounding Variants
1 paper
NM_000755.5
p.N272K
c.816C>A
1 paper
NM_000755.5
p.R273insFs
c.818_819insAT
1 paper
NM_000755.5
p.R273Q
c.818G>A
1 paper
NM_000755.5
p.R273_D274insFs
c.819_820insT
1 paper
NM_000755.5
p.D274N
c.820G>A
1 paper
NM_000755.5
p.V271M
c.811G>A
2 papers
NM_000755.5
p.K270K
c.810G>A
1 paper
NM_000755.5
p.S275Y
c.824C>A
1 paper
NM_000755.5
p.K270E
c.808A>G
1 paper
NM_000755.5
p.S275S
c.825C>T
1 paper
NM_000755.5
p.D269A
c.806A>C
1 paper
NM_000755.5
p.D269Splc
c.806-1G>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."