Varaico: Literature-Extracted Genetic Variants

Gene:ACSL3
Variant:p.P522S

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.P522S
c.1564C>T
Surrounding Variants
1 paper
NM_004457.5
p.K521N
c.1563G>C
1 paper
NM_004457.5
p.K521N
c.1563G>T
1 paper
NM_004457.5
p.L529V
c.1585C>G
1 paper
NM_004457.5
p.Y540_K541insA
c.1618_1622ins3
1 paper
NM_004457.5
p.N542_E543insT
c.1624_1628ins3
2 papers
NM_004457.5
p.F551S
c.1652T>C
1 paper
NM_004457.5
p.G556fs
c.1666_1667fs
1 paper
NM_004457.5
p.G556delFs
c.1668delA
1 paper
NM_004457.5
p.G566A
c.1697G>C
1 paper
NM_004457.5
p.P570L
c.1709C>T
1 paper
NM_004457.5
p.E512K
c.1534G>A
1 paper
NM_004457.5
p.R496I
c.1487G>T
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