Varaico: Literature-Extracted Genetic Variants

Gene:CRAT
Variant:p.S25_S26insFs

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.S25_S26insFs
c.75_76insAT
Surrounding Variants
1 paper
NM_000755.5
p.S25S
c.75C>T
1 paper
NM_000755.5
p.S25Y
c.74C>A
2 papers
NM_000755.5
p.S26R
c.76A>C
1 paper
NM_000755.5
p.S26insFs
c.76_77insTA
1 paper
NM_000755.5
p.S25A
c.73T>G
2 papers
NM_000755.5
p.S26N
c.77G>A
1 paper
NM_000755.5
p.A24A
c.72T>A
1 paper
NM_000755.5
p.M22_A24delFs
c.64_71del8
1 paper
NM_000755.5
p.S26S
c.78C>T
2 papers
NM_000755.5
p.S26R
c.78C>G
2 papers
NM_000755.5
p.S26_R27insFs
c.78_79insT
2 papers
NM_000755.5
p.S26R
c.78C>A
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