Varaico: Literature-Extracted Genetic Variants

Gene:CRAT
Variant:p.T66A

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.T66A
c.196A>G
Surrounding Variants
1 paper
NM_000755.5
p.T66P
c.196A>C
1 paper
NM_000755.5
p.T66I
c.197C>T
1 paper
NM_000755.5
p.T66ins5
c.196_197ins15
1 paper
NM_000755.5
p.H65L
c.194A>T
1 paper
NM_000755.5
p.H65R
c.194A>G
2 papers
NM_000755.5
p.H65Y
c.193C>T
1 paper
NM_000755.5
p.K67E
c.199A>G
1 paper
NM_000755.5
p.K67K
c.201G>A
1 paper
NM_000755.5
p.A64D
c.191C>A
1 paper
NM_000755.5
p.A64S
c.190G>T
1 paper
NM_000755.5
p.A64T
c.190G>A
1 paper
NM_000755.5
p.Q68insFs
c.202_203insT
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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."