Varaico: Literature-Extracted Genetic Variants

Gene:CRAT
Variant:p.S318S

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.S318S
c.954C>T
Surrounding Variants
1 paper
NM_000755.5
p.G319D
c.956G>A
1 paper
NM_000755.5
p.N320Y
c.958A>T
1 paper
NM_000755.5
p.L316_N317delFs
c.948_949delTG
1 paper
NM_000755.5
p.N320I
c.959A>T
1 paper
NM_000755.5
p.L316delFs
c.946_947delAG
1 paper
NM_000755.5
p.L316P
c.947T>C
1 paper
NM_000755.5
p.R321insFs
c.961_962insC
4 papers
NM_000755.5
p.R321H
c.962G>A
1 paper
NM_000755.5
p.R315G
c.943A>G
1 paper
NM_000755.5
p.F323S
c.968T>C
1 paper
NM_000755.5
p.S314fs
c.940_941fs
1 paper
NM_000755.5
p.G313A
c.938G>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."