Varaico: Literature-Extracted Genetic Variants

Gene:ACSM1

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
1–12 of 66 variants
4 papers
NM_001318890.3
p.A176P
c.526G>C
2 papers
NM_001318890.3
p.R133Q
c.398G>A
2 papers
NM_001318890.3
p.R322Q
c.965G>A
1 paper
NM_001318890.3
p.W3*
c.8G>A
1 paper
NM_001318890.3
p.W3C
c.9G>T
1 paper
NM_001318890.3
p.W3C
c.9G>C
1 paper
NM_001318890.3
p.W3*
c.9G>A
1 paper
NM_001318890.3
p.H21P
c.62A>C
1 paper
NM_001318890.3
p.F35L
c.103T>C
1 paper
NM_001318890.3
p.F35L
c.105T>G
1 paper
NM_001318890.3
p.F35L
c.105T>A
1 paper
NM_001318890.3
p.W40*
c.119G>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."