Varaico: Literature-Extracted Genetic Variants

Gene:CRAT
Variant:p.P42P

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.P42P
c.126T>A
Surrounding Variants
1 paper
NM_000755.5
p.P42P
c.126T>C
1 paper
NM_000755.5
p.L43F
c.127C>T
1 paper
NM_000755.5
p.P42H
c.125C>A
1 paper
NM_000755.5
p.L43P
c.128T>C
1 paper
NM_000755.5
p.P42S
c.124C>T
2 papers
NM_000755.5
p.P42A
c.124C>G
1 paper
NM_000755.5
p.P42T
c.124C>A
1 paper
NM_000755.5
p.L43L
c.129C>T
1 paper
NM_000755.5
p.P41P
c.123C>G
1 paper
NM_000755.5
p.L43insFs
c.128_129insT
1 paper
NM_000755.5
p.P41P
c.123C>A
1 paper
NM_000755.5
p.P41L
c.122C>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."