Varaico: Literature-Extracted Genetic Variants

Gene:ACSM2B

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
1–12 of 72 variants
6 papers
NM_001105069.2
p.E428D
c.1284A>T
6 papers
NM_001105069.2
p.E428D
c.1284A>C
3 papers
NM_001105069.2
p.K484E
c.1450A>G
2 papers
NM_001105069.2
p.I96V
c.286A>G
2 papers
NM_001105069.2
p.K195N
c.585G>T
2 papers
NM_001105069.2
p.K195N
c.585G>C
2 papers
NM_001105069.2
p.T278A
c.832A>G
2 papers
NM_001105069.2
p.G470R
c.1408G>C
2 papers
NM_001105069.2
p.G470R
c.1408G>A
2 papers
NM_001105069.2
p.T491M
c.1472C>T
2 papers
NM_001105069.2
p.R560*
c.1678C>T
1 paper
NM_001105069.2
p.R5*
c.13C>T
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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."