Varaico: Literature-Extracted Genetic Variants

Gene:CRAT
Variant:p.T362Splc

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.T362Splc
c.1086-19G>A
Surrounding Variants
2 papers
NM_000755.5
p.T362Splc
c.1086-1G>C
1 paper
NM_000755.5
p.P365P
c.1095C>T
1 paper
NM_000755.5
p.P365P
c.1095C>A
1 paper
NM_000755.5
p.E366K
c.1096G>A
1 paper
NM_000755.5
p.E366V
c.1097A>T
1 paper
NM_000755.5
p.L367F
c.1099C>T
1 paper
NM_000755.5
p.V368V
c.1104G>A
1 paper
NM_000755.5
p.K363_V368del0
c.1089_1103del15
1 paper
NM_000755.5
p.S370A
c.1108T>G
1 paper
NM_000755.5
p.S370P
c.1108T>C
1 paper
NM_000755.5
p.S370C
c.1109C>G
1 paper
NM_000755.5
p.S370S
c.1110T>C
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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."