Varaico: Literature-Extracted Genetic Variants

Gene:CRAT
Variant:p.F149L

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
3 papers
NM_000755.5
p.F149L
c.447C>A
Surrounding Variants
1 paper
NM_000755.5
p.F149del1
c.445_446delGAA
1 paper
NM_000755.5
p.D148delFs
c.443_444delAT
1 paper
NM_000755.5
p.K150R
c.449A>G
4 papers
NM_000755.5
p.D148E
c.444T>G
3 papers
NM_000755.5
p.D148E
c.444T>A
3 papers
NM_000755.5
p.V151I
c.451G>A
1 paper
NM_000755.5
p.D148A
c.443A>C
2 papers
NM_000755.5
p.V151delFs
c.451delC
1 paper
NM_000755.5
p.D148Y
c.442G>T
2 papers
NM_000755.5
p.D148N
c.442G>A
1 paper
NM_000755.5
p.L147*
c.440T>A
1 paper
NM_000755.5
p.M152fs
c.454_455fs
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."