Varaico: Literature-Extracted Genetic Variants

Gene:ACSM4
Variant:p.Y367H

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.Y367H
c.1099T>C
Surrounding Variants
2 papers
NM_001080454.2
p.T373M
c.1118C>T
1 paper
NM_001080454.2
p.V375_G376Splc
c.1125+1G>A
1 paper
NM_001080454.2
p.Q357R
c.1070A>G
1 paper
NM_001080454.2
p.Q357K
c.1069C>A
3 papers
NM_001080454.2
p.Q357*
c.1069C>T
1 paper
NM_001080454.2
p.E348Q
c.1042G>C
1 paper
NM_001080454.2
p.G346R
c.1036G>A
1 paper
NM_001080454.2
p.G346R
c.1036G>C
1 paper
NM_001080454.2
p.M396I
c.1188G>A
1 paper
NM_001080454.2
p.M396I
c.1188G>C
1 paper
NM_001080454.2
p.M396I
c.1188G>T
1 paper
NM_001080454.2
p.D405H
c.1213G>C
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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."