Varaico: Literature-Extracted Genetic Variants

Gene:ACSM2A
Variant:p.R148M

ACSM2A

87 papers

RefSeq Summary

This gene encodes a mitochondrial acyl-coenzyme A synthetase that is specific for medium chain fatty acids. These enzymes catalyze fatty acid activation, the first step of fatty acid metabolism, throu...

Pfam Domains

AMP-bindingaa 58–427UCSCAMP-binding enzyme
AMP-binding_Caa 477–557UCSCAMP-binding enzyme C-terminal domain

Gene Aliases

HGNC Name

acyl-CoA synthetase medium chain family member 2A

HGNC Previous Symbol

ACSM2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001308172.2
p.R148M
c.443G>T
Surrounding Variants
1 paper
NM_001308172.2
p.T143A
c.427A>G
1 paper
NM_001308172.2
p.I138F
c.412A>T
1 paper
NM_001308172.2
p.G136E
c.407G>A
1 paper
NM_001308172.2
p.G160V
c.479G>T
1 paper
NM_001308172.2
p.D161V
c.482A>T
1 paper
NM_001308172.2
p.G130Splc
c.389-1G>A
1 paper
NM_001308172.2
p.K180N
c.540G>C
1 paper
NM_001308172.2
p.K180N
c.540G>T
1 paper
NM_001308172.2
p.N199Splc
c.596+1G>A
1 paper
NM_001308172.2
p.C207G
c.619T>G
1 paper
NM_001308172.2
p.S216Y
c.647C>A
1 paper
NM_001308172.2
p.S222T
c.665G>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."