Varaico: Literature-Extracted Genetic Variants

Gene:CRAT
Variant:p.Y117F

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.Y117F
c.350A>T
Surrounding Variants
2 papers
NM_000755.5
p.S118A
c.352T>G
1 paper
NM_000755.5
p.I116M
c.348C>G
1 paper
NM_000755.5
p.V115_I116delFs
c.344_347del4
1 paper
NM_000755.5
p.I116T
c.347T>C
1 paper
NM_000755.5
p.S118S
c.354G>A
1 paper
NM_000755.5
p.I116F
c.346A>T
1 paper
NM_000755.5
p.I116_Y117insTA
c.346_350ins6
1 paper
NM_000755.5
p.V115G
c.344T>G
1 paper
NM_000755.5
p.V115D
c.344T>A
1 paper
NM_000755.5
p.V115L
c.343G>C
2 papers
NM_000755.5
p.S119S
c.357C>T
1 paper
NM_000755.5
p.S119_P120insFs
c.357_358insG
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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."