Varaico: Literature-Extracted Genetic Variants

Gene:ACSM2A
Variant:p.I394V

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.I394V
c.1180A>G
Surrounding Variants
1 paper
NM_001308172.2
p.V401I
c.1201G>A
1 paper
NM_001308172.2
p.T406I
c.1217C>T
1 paper
NM_001308172.2
p.G381*
c.1141G>T
1 paper
NM_001308172.2
p.T369P
c.1105A>C
1 paper
NM_001308172.2
p.R438Q
c.1313G>A
1 paper
NM_001308172.2
p.G439R
c.1315G>A
1 paper
NM_001308172.2
p.G439R
c.1315G>C
1 paper
NM_001308172.2
p.F441V
c.1321T>G
1 paper
NM_001308172.2
p.L444F
c.1330C>T
1 paper
NM_001308172.2
p.G460*
c.1378G>T
1 paper
NM_001308172.2
p.R461W
c.1381C>T
1 paper
NM_001308172.2
p.N463D
c.1387A>G
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