Varaico: Literature-Extracted Genetic Variants

Gene:CRAT
Variant:p.K17*

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.K17*
c.49A>T
Surrounding Variants
3 papers
NM_000755.5
p.K17E
c.49A>G
4 papers
NM_000755.5
p.L16_K17insFs
c.48_49insC
2 papers
NM_000755.5
p.L16L
c.48G>C
1 paper
NM_000755.5
p.L16L
c.48G>A
1 paper
NM_000755.5
p.K17insFs
c.50_51insT
1 paper
NM_000755.5
p.L16R
c.47T>G
3 papers
NM_000755.5
p.L16P
c.47T>C
1 paper
NM_000755.5
p.L16Q
c.47T>A
1 paper
NM_000755.5
p.K17N
c.51G>T
2 papers
NM_000755.5
p.P18S
c.52C>T
1 paper
NM_000755.5
p.P18A
c.52C>G
1 paper
NM_000755.5
p.L16V
c.46C>G
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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."