Varaico: Literature-Extracted Genetic Variants

Gene:CRAT
Variant:p.R382W

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.R382W
c.1144C>T
Surrounding Variants
1 paper
NM_000755.5
p.R382L
c.1145G>T
4 papers
NM_000755.5
p.F383Y
c.1148T>A
1 paper
NM_000755.5
p.P378_K379del2
c.1132_1136del6
1 paper
NM_000755.5
p.K379M
c.1136A>T
1 paper
NM_000755.5
p.K379E
c.1135A>G
1 paper
NM_000755.5
p.P378L
c.1133C>T
1 paper
NM_000755.5
p.P378R
c.1133C>G
1 paper
NM_000755.5
p.P374_L375del2
c.1120_1124del6
1 paper
NM_000755.5
p.E388*
c.1162G>T
1 paper
NM_000755.5
p.E388K
c.1162G>A
3 papers
NM_000755.5
p.P376S
c.1126C>T
1 paper
NM_000755.5
p.L375L
c.1125G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."