Varaico: Literature-Extracted Genetic Variants

Gene:ACSM1
Variant:p.V77fs

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.V77fs
c.229_230fs
Surrounding Variants
1 paper
NM_001318890.3
p.V77delFs
c.230_231delCA
1 paper
NM_001318890.3
p.N78T
c.233A>C
1 paper
NM_001318890.3
p.G111A
c.332G>C
2 papers
NM_001318890.3
p.R133Q
c.398G>A
1 paper
NM_001318890.3
p.R153*
c.457C>T
1 paper
NM_001318890.3
p.I162T
c.485T>C
4 papers
NM_001318890.3
p.A176P
c.526G>C
1 paper
NM_001318890.3
p.R193C
c.577C>T
1 paper
NM_001318890.3
p.R193L
c.578G>T
1 paper
NM_001318890.3
p.F199fs
c.595_596fs
1 paper
NM_001318890.3
p.R200fs
c.598_599fs
1 paper
NM_001318890.3
p.Y58D
c.172T>G
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