Varaico: Literature-Extracted Genetic Variants

Gene:ACSM2A
Variant:p.D245N

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.D245N
c.733G>A
Surrounding Variants
1 paper
NM_001308172.2
p.L227F
c.679C>T
1 paper
NM_001308172.2
p.S222T
c.665G>C
1 paper
NM_001308172.2
p.S216Y
c.647C>A
1 paper
NM_001308172.2
p.C207G
c.619T>G
1 paper
NM_001308172.2
p.Q252*
c.754C>T
1 paper
NM_001308172.2
p.W258*
c.773G>A
1 paper
NM_001308172.2
p.W258*
c.774G>A
1 paper
NM_001308172.2
p.D262V
c.785A>T
1 paper
NM_001308172.2
p.L267V
c.799C>G
1 paper
NM_001308172.2
p.C271G
c.811T>G
1 paper
NM_001308172.2
p.L273R
c.818T>G
1 paper
NM_001308172.2
p.P276S
c.826C>T
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