Varaico: Literature-Extracted Genetic Variants

Gene:CRAT
Variant:p.K390K

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.K390K
c.1170G>A
Surrounding Variants
21 papers
NM_000755.5
p.I389I
c.1167C>T
1 paper
NM_000755.5
p.E388D
c.1164G>T
1 paper
NM_000755.5
p.E388D
c.1164G>C
1 paper
NM_000755.5
p.E388*
c.1162G>T
1 paper
NM_000755.5
p.E388K
c.1162G>A
1 paper
NM_000755.5
p.E394K
c.1180G>A
1 paper
NM_000755.5
p.D392_E394ins1
c.1175_1180dup6
2 papers
NM_000755.5
p.K395R
c.1184A>G
4 papers
NM_000755.5
p.F383Y
c.1148T>A
1 paper
NM_000755.5
p.Q398*
c.1192C>T
1 paper
NM_000755.5
p.Q398E
c.1192C>G
1 paper
NM_000755.5
p.Q398_N399insFs
c.1194_1195insAT
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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."