Varaico: Literature-Extracted Genetic Variants

Gene:ACSM2A
Variant:p.S476P

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.S476P
c.1426T>C
Surrounding Variants
1 paper
NM_001308172.2
p.S476L
c.1427C>T
1 paper
NM_001308172.2
p.E479A
c.1436A>C
1 paper
NM_001308172.2
p.R472Q
c.1415G>A
1 paper
NM_001308172.2
p.E479D
c.1437G>C
1 paper
NM_001308172.2
p.E479D
c.1437G>T
1 paper
NM_001308172.2
p.R472W
c.1414C>T
1 paper
NM_001308172.2
p.M483I
c.1449G>A
1 paper
NM_001308172.2
p.E484K
c.1450G>A
1 paper
NM_001308172.2
p.A487S
c.1459G>T
1 paper
NM_001308172.2
p.V488M
c.1462G>A
1 paper
NM_001308172.2
p.E490V
c.1469A>T
2 papers
NM_001308172.2
p.T491M
c.1472C>T
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