Varaico: Literature-Extracted Genetic Variants

Gene:CRAT
Variant:p.L108insFs

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.L108insFs
c.322_323insGT
Surrounding Variants
1 paper
NM_000755.5
p.L108F
c.322C>T
1 paper
NM_000755.5
p.T105_Y107del3
c.313_320del9
2 papers
NM_000755.5
p.L108R
c.323T>G
2 papers
NM_000755.5
p.L108H
c.323T>A
1 paper
NM_000755.5
p.L108L
c.324C>A
1 paper
NM_000755.5
p.Y107F
c.320A>T
1 paper
NM_000755.5
p.A106A
c.318C>T
1 paper
NM_000755.5
p.Q109L
c.326A>T
3 papers
NM_000755.5
p.A106V
c.317C>T
1 paper
NM_000755.5
p.A106_Y107insC
c.316_320ins3
4 papers
NM_000755.5
p.A106T
c.316G>A
1 paper
NM_000755.5
p.T105T
c.315C>T
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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."