Varaico: Literature-Extracted Genetic Variants

Gene:ACSM3
Variant:p.F438L

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.F438L
c.1312T>C
Surrounding Variants
1 paper
NM_005622.4
p.F438fs
c.1312_1313fs
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.L437delFs
c.1310delT
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.Q428*
c.1282C>T
1 paper
NM_005622.4
p.D424fs
c.1270_1271fs
1 paper
NM_005622.4
p.Q421P
c.1262A>C
1 paper
NM_005622.4
p.Y457C
c.1370A>G
1 paper
NM_005622.4
p.G460R
c.1378G>A
1 paper
NM_005622.4
p.G460R
c.1378G>C
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