Varaico: Literature-Extracted Genetic Variants

Gene:ACSM3

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
1–12 of 90 variants
8 papers
NM_005622.4
p.L100P
c.299T>C
4 papers
NM_005622.4
p.Y441*
c.1323C>A
4 papers
NM_005622.4
p.Y441*
c.1323C>G
2 papers
NM_005622.4
p.K73N
c.219G>T
2 papers
NM_005622.4
p.Q164L
c.491A>T
2 papers
NM_005622.4
p.W292*
c.875G>A
1 paper
NM_005622.4
p.M1V
c.1A>G
1 paper
NM_005622.4
p.M1I
c.3G>T
1 paper
NM_005622.4
p.M9L
c.25A>T
1 paper
NM_005622.4
p.R11H
c.32G>A
1 paper
NM_005622.4
p.R18G
c.52C>G
1 paper
NM_005622.4
p.D31E
c.93T>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."