Varaico: Literature-Extracted Genetic Variants

Gene:CRAT
Variant:p.Q68Q

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.Q68Q
c.204G>A
Surrounding Variants
1 paper
NM_000755.5
p.L69L
c.205C>T
1 paper
NM_000755.5
p.L69M
c.205C>A
1 paper
NM_000755.5
p.Q68insFs
c.203_204insC
1 paper
NM_000755.5
p.Q68_L69delFs
c.204_205delGC
1 paper
NM_000755.5
p.A64_L69delFs
c.192_205del14
1 paper
NM_000755.5
p.Q68insFs
c.202_203insT
1 paper
NM_000755.5
p.L69L
c.207G>A
1 paper
NM_000755.5
p.K67K
c.201G>A
1 paper
NM_000755.5
p.V70insFs
c.209_210insG
1 paper
NM_000755.5
p.K67E
c.199A>G
1 paper
NM_000755.5
p.D71Y
c.211G>T
2 papers
NM_000755.5
p.D71N
c.211G>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."