Varaico: Literature-Extracted Genetic Variants

Gene:CRAT
Variant:p.F15I

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
2 papers
NM_000755.5
p.F15I
c.43T>A
Surrounding Variants
1 paper
NM_000755.5
p.F15Y
c.44T>A
1 paper
NM_000755.5
p.G14G
c.42C>A
3 papers
NM_000755.5
p.G14D
c.41G>A
1 paper
NM_000755.5
p.F15L
c.45C>A
1 paper
NM_000755.5
p.G14_F15insT
c.40_44ins3
1 paper
NM_000755.5
p.G14S
c.40G>A
1 paper
NM_000755.5
p.L16V
c.46C>G
1 paper
NM_000755.5
p.L16insFs
c.46_47insT
1 paper
NM_000755.5
p.L16M
c.46C>A
1 paper
NM_000755.5
p.L16R
c.47T>G
3 papers
NM_000755.5
p.L16P
c.47T>C
1 paper
NM_000755.5
p.L16Q
c.47T>A
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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."