Varaico: Literature-Extracted Genetic Variants

Gene:ACSM3
Variant:p.W292*

ACSM3

90 papers

Pfam Domains

AMP-bindingaa 71–429UCSCAMP-binding enzyme
AMP-binding_Caa 492–572UCSCAMP-binding enzyme C-terminal domain

Gene Aliases

HGNC Name

acyl-CoA synthetase medium chain family member 3

HGNC Previous Symbol

SAH

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_005622.4
p.W292*
c.875G>A
Surrounding Variants
1 paper
NM_005622.4
p.W292*
c.876G>A
1 paper
NM_005622.4
p.S283A
c.847T>G
1 paper
NM_005622.4
p.H302Y
c.904C>T
1 paper
NM_005622.4
p.P308T
c.922C>A
1 paper
NM_005622.4
p.V271M
c.811G>A
1 paper
NM_005622.4
p.D270H
c.808G>C
1 paper
NM_005622.4
p.P268_T275del0
c.803_823del21
1 paper
NM_005622.4
p.P268_T275del8
c.802_824del24
1 paper
NM_005622.4
p.Q313_T314Splc
c.939+58A>C
1 paper
NM_005622.4
p.L254L
c.760T>C
1 paper
NM_005622.4
p.I232V
c.694A>G
1 paper
NM_005622.4
p.E228K
c.682G>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."