Varaico: Literature-Extracted Genetic Variants

Gene:ACSM4
Variant:p.R6fs

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.R6fs
c.16_17fs
Surrounding Variants
1 paper
NM_001080454.2
p.R6C
c.16C>T
1 paper
NM_001080454.2
p.R6H
c.17G>A
1 paper
NM_001080454.2
p.I13F
c.37A>T
1 paper
NM_001080454.2
p.R21W
c.61C>T
1 paper
NM_001080454.2
p.A36V
c.107C>T
2 papers
NM_001080454.2
p.P49S
c.145C>T
1 paper
NM_001080454.2
p.D60N
c.178G>A
1 paper
NM_001080454.2
p.D60Y
c.178G>T
1 paper
NM_001080454.2
p.Q64H
c.192A>C
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.E93K
c.277G>A
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