Varaico: Literature-Extracted Genetic Variants

Gene:ACOT1
Variant:p.V23E

ACOT1

27 papers

Pfam Domains

Bile_Hydr_Transaa 16–141UCSCAcyl-CoA thioester hydrolase/BAAT N-terminal region
BAAT_Caa 203–412UCSCBAAT / Acyl-CoA thioester hydrolase C terminal

Gene Aliases

HGNC Name

acyl-CoA thioesterase 1

HGNC Alias Symbols

ACH2; CTE-1; LACH2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001037161.2
p.V23E
c.68T>A
Surrounding Variants
1 paper
NM_001037161.2
p.Q30*
c.88C>T
1 paper
NM_001037161.2
p.K42R
c.125A>G
1 paper
NM_001037161.2
p.Q47K
c.139C>A
1 paper
NM_001037161.2
p.G79insFs
c.237dupG
1 paper
NM_001037161.2
p.G79V
c.236G>T
1 paper
NM_001037161.2
p.L80fs
c.238_239fs
1 paper
NM_001037161.2
p.P114R
c.341C>G
1 paper
NM_001037161.2
p.P114L
c.341C>T
1 paper
NM_001037161.2
p.R118R
c.352C>A
1 paper
NM_001037161.2
p.R124W
c.370C>T
1 paper
NM_001037161.2
p.E137_A141delFs
c.410_423del14
1 paper
NM_001037161.2
p.E137fs
c.409_410fs
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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."