Varaico: Literature-Extracted Genetic Variants

Gene:ACSM4
Variant:p.R99Q

ACSM4

68 papers

Pfam Domains

AMP-bindingaa 64–425UCSCAMP-binding enzyme
AMP-binding_Caa 486–566UCSCAMP-binding enzyme C-terminal domain

Gene Aliases

HGNC Name

acyl-CoA synthetase medium chain family member 4

HGNC Alias Name

similar to olfactory specific medium-chain acyl CoA synthetase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001080454.2
p.R99Q
c.296G>A
Surrounding Variants
1 paper
NM_001080454.2
p.R99*
c.295C>T
1 paper
NM_001080454.2
p.E93K
c.277G>A
1 paper
NM_001080454.2
p.Q112K
c.334C>A
1 paper
NM_001080454.2
p.A118A
c.354C>T
1 paper
NM_001080454.2
p.V119delFs
c.355delG
1 paper
NM_001080454.2
p.E70K
c.208G>A
1 paper
NM_001080454.2
p.E70*
c.208G>T
1 paper
NM_001080454.2
p.N131S
c.392A>G
1 paper
NM_001080454.2
p.N131K
c.393T>A
1 paper
NM_001080454.2
p.N131K
c.393T>G
1 paper
NM_001080454.2
p.R136Q
c.407G>A
1 paper
NM_001080454.2
p.G138Splc
c.412+240G>C
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