Varaico: Literature-Extracted Genetic Variants

Gene:ACSBG2

ACSBG2

71 papers

Pfam Domains

AMP-bindingaa 57–476UCSCAMP-binding enzyme
AMP-binding_C_3aa 513–638UCSCAMP-binding enzyme C-terminal domain

Gene Aliases

HGNC Name

acyl-CoA synthetase bubblegum family member 2

HGNC Alias Symbols

BGR; PRTD-NY3; DKFZp434K1635

Papers
RefSeq ID
Protein change
DNA change
1–12 of 64 variants
4 papers
NM_030924.5
p.V143A
c.428T>C
4 papers
NM_030924.5
p.I250M
c.750T>G
3 papers
NM_030924.5
p.E626Q
c.1876G>C
2 papers
NM_030924.5
p.G75R
c.223G>C
2 papers
NM_030924.5
p.K152R
c.455A>G
2 papers
NM_030924.5
p.G584D
c.1751G>A
2 papers
NM_030924.5
p.G586D
c.1757G>A
2 papers
NM_030924.5
p.R624K
c.1871G>A
2 papers
NM_030924.5
p.D634N
c.1900G>A
1 paper
NM_030924.5
p.A11V
c.32C>T
1 paper
NM_030924.5
p.D13E
c.39T>A
1 paper
NM_030924.5
p.D13E
c.39T>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."