Varaico: Literature-Extracted Genetic Variants

Gene:CRAT
Variant:p.D33G

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.D33G
c.98A>G
Surrounding Variants
1 paper
NM_000755.5
p.D33V
c.98A>T
1 paper
NM_000755.5
p.D33A
c.98A>C
1 paper
NM_000755.5
p.D33E
c.99T>A
1 paper
NM_000755.5
p.D33N
c.97G>A
1 paper
NM_000755.5
p.Q32H
c.96G>C
3 papers
NM_000755.5
p.Q32Q
c.96G>A
2 papers
NM_000755.5
p.A34V
c.101C>T
1 paper
NM_000755.5
p.A34insFs
c.101_102insAT
1 paper
NM_000755.5
p.A34E
c.101C>A
2 papers
NM_000755.5
p.Q32R
c.95A>G
1 paper
NM_000755.5
p.Q32K
c.94C>A
1 paper
NM_000755.5
p.A34A
c.102A>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."