Varaico: Literature-Extracted Genetic Variants

Gene:ACSL3
Variant:p.E598*

ACSL3

77 papers

RefSeq Summary

The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, al...

Pfam Domains

AMP-bindingaa 113–540UCSCAMP-binding enzyme

Gene Aliases

HGNC Name

acyl-CoA synthetase long chain family member 3

HGNC Previous Symbol

FACL3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004457.5
p.E598*
c.1792G>T
Surrounding Variants
1 paper
NM_004457.5
p.L594P
c.1781T>C
1 paper
NM_004457.5
p.A612V
c.1835C>T
2 papers
NM_004457.5
p.L583V
c.1747C>G
1 paper
NM_004457.5
p.A614T
c.1840G>A
1 paper
NM_004457.5
p.R637*
c.1909C>T
1 paper
NM_004457.5
p.S651_M654del4
c.1951_1961del12
1 paper
NM_004457.5
p.E653K
c.1957G>A
1 paper
NM_004457.5
p.P570L
c.1709C>T
1 paper
NM_004457.5
p.G566A
c.1697G>C
1 paper
NM_004457.5
p.G556delFs
c.1668delA
1 paper
NM_004457.5
p.G556fs
c.1666_1667fs
2 papers
NM_004457.5
p.F551S
c.1652T>C
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