Varaico: Literature-Extracted Genetic Variants

Gene:CRAT
Variant:p.P113L

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
6 papers
NM_000755.5
p.P113L
c.338C>T
Surrounding Variants
1 paper
NM_000755.5
p.Q112delFs
c.335_336delCT
1 paper
NM_000755.5
p.V114M
c.340G>A
3 papers
NM_000755.5
p.V114A
c.341T>C
1 paper
NM_000755.5
p.V114E
c.341T>A
1 paper
NM_000755.5
p.Q112R
c.335A>G
2 papers
NM_000755.5
p.Q112P
c.335A>C
1 paper
NM_000755.5
p.V115L
c.343G>C
1 paper
NM_000755.5
p.V115G
c.344T>G
1 paper
NM_000755.5
p.V115D
c.344T>A
2 papers
NM_000755.5
p.R111L
c.332G>T
7 papers
NM_000755.5
p.Y110Y
c.330C>T
1 paper
NM_000755.5
p.I116F
c.346A>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."