Varaico: Literature-Extracted Genetic Variants

Gene:ACSM2A
Variant:p.Y24H

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
2 papers
NM_001308172.2
p.Y24H
c.70T>C
Surrounding Variants
2 papers
NM_001308172.2
p.Y24*
c.72C>A
2 papers
NM_001308172.2
p.Y24*
c.72C>G
1 paper
NM_001308172.2
p.I25T
c.74T>C
1 paper
NM_001308172.2
p.M18I
c.54G>A
1 paper
NM_001308172.2
p.M18I
c.54G>C
1 paper
NM_001308172.2
p.M18I
c.54G>T
1 paper
NM_001308172.2
p.E39K
c.115G>A
3 papers
NM_001308172.2
p.P41L
c.122C>T
2 papers
NM_001308172.2
p.R5Q
c.14G>A
1 paper
NM_001308172.2
p.L51*
c.152T>A
1 paper
NM_001308172.2
p.D52E
c.156T>A
1 paper
NM_001308172.2
p.M57T
c.170T>C
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