Varaico: Literature-Extracted Genetic Variants

Gene:CRAT
Variant:p.N96N

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.N96N
c.288C>T
Surrounding Variants
1 paper
NM_000755.5
p.W97R
c.289T>C
1 paper
NM_000755.5
p.N96T
c.287A>C
1 paper
NM_000755.5
p.W97L
c.290G>T
1 paper
NM_000755.5
p.W97insFs
c.290_291insA
1 paper
NM_000755.5
p.W97C
c.291G>C
1 paper
NM_000755.5
p.W97*
c.291G>A
2 papers
NM_000755.5
p.W97_L98Splc
c.291+2T>A
3 papers
NM_000755.5
p.E95Q
c.283G>C
1 paper
NM_000755.5
p.T94T
c.282G>T
1 paper
NM_000755.5
p.T94A
c.280A>G
1 paper
NM_000755.5
p.W97_L98Splc
c.291+6T>A
3 papers
NM_000755.5
p.R92S
c.276G>T
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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."