Varaico: Literature-Extracted Genetic Variants

Gene:CRAT
Variant:p.M22_A24delFs

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.M22_A24delFs
c.64_71del8
Surrounding Variants
1 paper
NM_000755.5
p.A24A
c.72T>A
1 paper
NM_000755.5
p.S25A
c.73T>G
1 paper
NM_000755.5
p.A24T
c.70G>A
1 paper
NM_000755.5
p.S25Y
c.74C>A
1 paper
NM_000755.5
p.S25S
c.75C>T
1 paper
NM_000755.5
p.S25_S26insFs
c.75_76insAT
4 papers
NM_000755.5
p.K23R
c.68A>G
2 papers
NM_000755.5
p.S26R
c.76A>C
1 paper
NM_000755.5
p.S26insFs
c.76_77insTA
2 papers
NM_000755.5
p.S26N
c.77G>A
2 papers
NM_000755.5
p.K23E
c.67A>G
1 paper
NM_000755.5
p.M22I
c.66G>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."