Varaico: Literature-Extracted Genetic Variants

Gene:ACSM2B
Variant:p.R560Q

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
1 paper
NM_001105069.2
p.R560Q
c.1679G>A
Surrounding Variants
2 papers
NM_001105069.2
p.R560*
c.1678C>T
1 paper
NM_001105069.2
p.Q559R
c.1676A>G
1 paper
NM_001105069.2
p.R564*
c.1690C>T
1 paper
NM_001105069.2
p.P551T
c.1651C>A
1 paper
NM_001105069.2
p.A576V
c.1727C>T
1 paper
NM_001105069.2
p.K539R
c.1616A>G
1 paper
NM_001105069.2
p.P537L
c.1610C>T
1 paper
NM_001105069.2
p.K532T
c.1595A>C
1 paper
NM_001105069.2
p.P520T
c.1558C>A
1 paper
NM_001105069.2
p.S513L
c.1538C>T
1 paper
NM_001105069.2
p.A512S
c.1534G>T
1 paper
NM_001105069.2
p.I510I
c.1530C>A
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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."