Varaico: Literature-Extracted Genetic Variants

Gene:ACSM2B
Variant:p.E428D

ACSM2B

74 papers

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 2B

HGNC Previous Symbol

ACSM2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_001105069.2
p.E428D
c.1284A>C
Surrounding Variants
6 papers
NM_001105069.2
p.E428D
c.1284A>T
1 paper
NM_001105069.2
p.D431N
c.1291G>A
1 paper
NM_001105069.2
p.R447W
c.1339C>T
1 paper
NM_001105069.2
p.Y455D
c.1363T>G
1 paper
NM_001105069.2
p.R461Q
c.1382G>A
2 papers
NM_001105069.2
p.G470R
c.1408G>C
2 papers
NM_001105069.2
p.G470R
c.1408G>A
1 paper
NM_001105069.2
p.R472L
c.1415G>T
3 papers
NM_001105069.2
p.K484E
c.1450A>G
2 papers
NM_001105069.2
p.T491M
c.1472C>T
1 paper
NM_001105069.2
p.P499S
c.1495C>T
1 paper
NM_001105069.2
p.I422M
c.1266C>G
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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."