Varaico: Literature-Extracted Genetic Variants

Gene:ACSM3
Variant:p.Q164L

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.Q164L
c.491A>T
Surrounding Variants
1 paper
NM_005622.4
p.A183T
c.547G>A
1 paper
NM_005622.4
p.A183A
c.549T>A
1 paper
NM_005622.4
p.V184D
c.551T>A
1 paper
NM_005622.4
p.C188S
c.562T>A
1 paper
NM_005622.4
p.C188S
c.563G>C
1 paper
NM_005622.4
p.H192L
c.575A>T
1 paper
NM_005622.4
p.S193A
c.577T>G
1 paper
NM_005622.4
p.E203K
c.607G>A
1 paper
NM_005622.4
p.G144R
c.430G>A
1 paper
NM_005622.4
p.G144R
c.430G>C
1 paper
NM_005622.4
p.A136E
c.407C>A
1 paper
NM_005622.4
p.R122Q
c.365G>A
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