Varaico: Literature-Extracted Genetic Variants

Gene:CRAT
Variant:p.M1insFs

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.M1insFs
c.2_3insC
Surrounding Variants
5 papers
NM_000755.5
p.M1T
c.2T>C
1 paper
NM_000755.5
p.M1K
c.2T>A
1 paper
NM_000755.5
p.M1delFs
c.1delT
3 papers
NM_000755.5
p.M1I
c.3G>T
1 paper
NM_000755.5
p.M1insFs
c.2dupT
1 paper
NM_000755.5
p.M1_L2insFs
c.3_4insA
2 papers
NM_000755.5
p.M1delFs
c.2delA
1 paper
NM_000755.5
p.M1delFs
c.1_2delAT
2 papers
NM_000755.5
p.M1L
c.1A>T
3 papers
NM_000755.5
p.M1V
c.1A>G
1 paper
NM_000755.5
p.M1L
c.1A>C
1 paper
NM_000755.5
p.M1insFs
c.1_2insC
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."