Varaico: Literature-Extracted Genetic Variants

Gene:CRAT
Variant:p.S275Y

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.S275Y
c.824C>A
Surrounding Variants
1 paper
NM_000755.5
p.S275S
c.825C>T
1 paper
NM_000755.5
p.D274N
c.820G>A
1 paper
NM_000755.5
p.R273_D274insFs
c.819_820insT
1 paper
NM_000755.5
p.R273insFs
c.818_819insAT
1 paper
NM_000755.5
p.R277P
c.830G>C
1 paper
NM_000755.5
p.R273Q
c.818G>A
1 paper
NM_000755.5
p.R277R
c.831C>A
1 paper
NM_000755.5
p.S278A
c.832T>G
1 paper
NM_000755.5
p.V276_R277delFs
c.828_831del4
1 paper
NM_000755.5
p.N272K
c.816C>G
1 paper
NM_000755.5
p.N272K
c.816C>A
1 paper
NM_000755.5
p.S278C
c.833C>G
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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."