Varaico: Literature-Extracted Genetic Variants

Gene:ACSM3
Variant:p.Y457C

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
1 paper
NM_005622.4
p.Y457C
c.1370A>G
Surrounding Variants
1 paper
NM_005622.4
p.G460R
c.1378G>A
1 paper
NM_005622.4
p.G460R
c.1378G>C
1 paper
NM_005622.4
p.G460E
c.1379G>A
1 paper
NM_005622.4
p.G485V
c.1454G>T
1 paper
NM_005622.4
p.R487Q
c.1460G>A
1 paper
NM_005622.4
p.E505K
c.1513G>A
4 papers
NM_005622.4
p.Y441*
c.1323C>A
4 papers
NM_005622.4
p.Y441*
c.1323C>G
1 paper
NM_005622.4
p.F438L
c.1314T>A
1 paper
NM_005622.4
p.F438L
c.1314T>G
1 paper
NM_005622.4
p.F438L
c.1312T>C
1 paper
NM_005622.4
p.F438fs
c.1312_1313fs
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