Varaico: Literature-Extracted Genetic Variants

Gene:CRAT
Variant:p.Q74R

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.Q74R
c.221A>G
Surrounding Variants
1 paper
NM_000755.5
p.Q74K
c.220C>A
1 paper
NM_000755.5
p.A75D
c.224C>A
1 paper
NM_000755.5
p.F73L
c.217T>C
1 paper
NM_000755.5
p.F73I
c.217T>A
1 paper
NM_000755.5
p.E72D
c.216G>T
1 paper
NM_000755.5
p.E72D
c.216G>C
1 paper
NM_000755.5
p.E72A
c.215A>C
1 paper
NM_000755.5
p.Q68_E72delFs
c.204_214del11
1 paper
NM_000755.5
p.A64_D71del8
c.190_212del24
3 papers
NM_000755.5
p.E72K
c.214G>A
1 paper
NM_000755.5
p.G77R
c.229G>C
1 paper
NM_000755.5
p.G77R
c.229G>A
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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."