Varaico: Literature-Extracted Genetic Variants

Gene:CRAT
Variant:p.L375L

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.L375L
c.1123C>T
Surrounding Variants
1 paper
NM_000755.5
p.P374P
c.1122C>T
1 paper
NM_000755.5
p.L375L
c.1125G>C
3 papers
NM_000755.5
p.P376S
c.1126C>T
1 paper
NM_000755.5
p.P374_L375del2
c.1120_1124del6
1 paper
NM_000755.5
p.L372R
c.1115T>G
1 paper
NM_000755.5
p.L372V
c.1114C>G
1 paper
NM_000755.5
p.L372M
c.1114C>A
1 paper
NM_000755.5
p.P378L
c.1133C>T
1 paper
NM_000755.5
p.P378R
c.1133C>G
1 paper
NM_000755.5
p.P371_L372insFs
c.1113_1114insT
1 paper
NM_000755.5
p.P371S
c.1111C>T
1 paper
NM_000755.5
p.K379E
c.1135A>G
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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."