Varaico: Literature-Extracted Genetic Variants

Gene:CRAT
Variant:p.V9_V10Splc

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.V9_V10Splc
c.28-2A>G
Surrounding Variants
4 papers
NM_000755.5
p.V9_V10Splc
c.28-1G>T
4 papers
NM_000755.5
p.V9_V10Splc
c.28-1G>A
1 paper
NM_000755.5
p.V10G
c.29T>G
3 papers
NM_000755.5
p.V10A
c.29T>C
1 paper
NM_000755.5
p.V10V
c.30G>A
1 paper
NM_000755.5
p.K11*
c.31A>T
1 paper
NM_000755.5
p.K11E
c.31A>G
15 papers
NM_000755.5
p.P12A
c.34C>G
1 paper
NM_000755.5
p.P12L
c.35C>T
1 paper
NM_000755.5
p.L13L
c.37C>T
1 paper
NM_000755.5
p.L13V
c.37C>G
1 paper
NM_000755.5
p.L13M
c.37C>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."