Varaico: Literature-Extracted Genetic Variants

Gene:CRAT
Variant:p.A6T

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.A6T
c.16G>A
Surrounding Variants
1 paper
NM_000755.5
p.A6V
c.17C>T
3 papers
NM_000755.5
p.A6G
c.17C>G
1 paper
NM_000755.5
p.A6insFs
c.17_18insT
1 paper
NM_000755.5
p.A6D
c.17C>A
3 papers
NM_000755.5
p.A6A
c.18C>T
1 paper
NM_000755.5
p.A5V
c.14C>T
1 paper
NM_000755.5
p.A5insFs
c.14_15insT
1 paper
NM_000755.5
p.A6_R7insFs
c.18_19insAT
1 paper
NM_000755.5
p.A6A
c.18C>A
1 paper
NM_000755.5
p.A5_A6insAA
c.13_17ins6
2 papers
NM_000755.5
p.A5P
c.13G>C
2 papers
NM_000755.5
p.A5T
c.13G>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."