Varaico: Literature-Extracted Genetic Variants

Gene:CRAT
Variant:p.W102L

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.W102L
c.305G>T
Surrounding Variants
2 papers
NM_000755.5
p.W102G
c.304T>G
3 papers
NM_000755.5
p.W102*
c.306G>A
1 paper
NM_000755.5
p.W101_W102insFs
c.303_304insT
1 paper
NM_000755.5
p.W101*
c.303G>A
1 paper
NM_000755.5
p.W101*
c.302G>A
1 paper
NM_000755.5
p.W101R
c.301T>A
2 papers
NM_000755.5
p.E100D
c.300G>T
1 paper
NM_000755.5
p.E100D
c.300G>C
1 paper
NM_000755.5
p.E100G
c.299A>G
2 papers
NM_000755.5
p.E100A
c.299A>C
1 paper
NM_000755.5
p.K104N
c.312G>T
1 paper
NM_000755.5
p.K104N
c.312G>C
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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."