Varaico: Literature-Extracted Genetic Variants

Gene:ACSM1
Variant:p.S239F

ACSM1

60 papers

Pfam Domains

AMP-bindingaa 62–432UCSCAMP-binding enzyme
AMP-binding_Caa 483–563UCSCAMP-binding enzyme C-terminal domain

Gene Aliases

HGNC Name

acyl-CoA synthetase medium chain family member 1

HGNC Previous Symbol

BUCS1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001318890.3
p.S239F
c.716C>T
Surrounding Variants
1 paper
NM_001318890.3
p.H238Y
c.712C>T
1 paper
NM_001318890.3
p.L244I
c.730T>A
1 paper
NM_001318890.3
p.T230_G231del2
c.688_692del6
1 paper
NM_001318890.3
p.T278S
c.832A>T
1 paper
NM_001318890.3
p.T278S
c.833C>G
1 paper
NM_001318890.3
p.A285V
c.854C>T
1 paper
NM_001318890.3
p.H292D
c.874C>G
1 paper
NM_001318890.3
p.R322*
c.964C>T
2 papers
NM_001318890.3
p.R322Q
c.965G>A
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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."