Varaico: Literature-Extracted Genetic Variants

Gene:ACSBG2
Variant:p.D13E

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
Selected Variant
1 paper
NM_030924.5
p.D13E
c.39T>A
Surrounding Variants
1 paper
NM_030924.5
p.D13E
c.39T>G
1 paper
NM_030924.5
p.A11V
c.32C>T
1 paper
NM_030924.5
p.V23D
c.68T>A
1 paper
NM_030924.5
p.C31C
c.93T>C
1 paper
NM_030924.5
p.L37F
c.109C>T
1 paper
NM_030924.5
p.P45L
c.134C>T
1 paper
NM_030924.5
p.R58*
c.172C>T
1 paper
NM_030924.5
p.R63*
c.187C>T
2 papers
NM_030924.5
p.G75R
c.223G>C
1 paper
NM_030924.5
p.N84S
c.251A>G
1 paper
NM_030924.5
p.R91W
c.271C>T
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