Varaico: Literature-Extracted Genetic Variants

Gene:CRAT
Variant:p.Q127K

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.Q127K
c.379C>A
Surrounding Variants
1 paper
NM_000755.5
p.Q127*
c.379C>T
1 paper
NM_000755.5
p.K126_Q127delFs
c.378_379delGC
1 paper
NM_000755.5
p.K126E
c.376A>G
1 paper
NM_000755.5
p.P125P
c.375C>G
1 paper
NM_000755.5
p.D128G
c.383A>G
1 paper
NM_000755.5
p.P125L
c.374C>T
1 paper
NM_000755.5
p.D128E
c.384C>G
1 paper
NM_000755.5
p.D128E
c.384C>A
1 paper
NM_000755.5
p.F129L
c.385T>C
1 paper
NM_000755.5
p.F129I
c.385T>A
1 paper
NM_000755.5
p.P125T
c.373C>A
2 papers
NM_000755.5
p.F129S
c.386T>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."