Varaico: Literature-Extracted Genetic Variants

Gene:CRAT
Variant:p.F19S

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
2 papers
NM_000755.5
p.F19S
c.56T>C
Surrounding Variants
1 paper
NM_000755.5
p.F19C
c.56T>G
1 paper
NM_000755.5
p.F19Y
c.56T>A
2 papers
NM_000755.5
p.F19L
c.55T>C
1 paper
NM_000755.5
p.F19I
c.55T>A
1 paper
NM_000755.5
p.S20T
c.58T>A
1 paper
NM_000755.5
p.P18_F19insFs
c.54_55insA
2 papers
NM_000755.5
p.P18S
c.52C>T
1 paper
NM_000755.5
p.S20S
c.60C>T
1 paper
NM_000755.5
p.P18A
c.52C>G
1 paper
NM_000755.5
p.P18T
c.52C>A
2 papers
NM_000755.5
p.L21M
c.61T>A
1 paper
NM_000755.5
p.S20delFs
c.60delG
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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."