Varaico: Literature-Extracted Genetic Variants

Gene:ACSL4
Variant:p.P520S

ACSL4

110 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 102–531UCSCAMP-binding enzyme

Gene Aliases

HGNC Name

acyl-CoA synthetase long chain family member 4

HGNC Previous Symbols

FACL4; MRX63; MRX68

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001318510.2
p.P520S
c.1558C>T
Surrounding Variants
1 paper
NM_001318510.2
p.C523S
c.1567T>A
1 paper
NM_001318510.2
p.C523S
c.1568G>C
1 paper
NM_022977.3
p.T553A
c.1657A>G
1 paper
NM_022977.3
p.A538V
c.1613C>T
1 paper
NM_001318510.2
p.E494Fs
c.1482delinsGCCAGGFs
1 paper
NM_001318510.2
p.G488E
c.1463G>A
2 papers
NM_001318510.2
p.Q483R
c.1448A>G
1 paper
NM_001318510.2
p.R475fs
c.1423_1424fs
1 paper
NM_001318510.2
p.N473D
c.1417A>G
1 paper
NM_001318510.2
p.Y466H
c.1396T>C
1 paper
NM_001318510.2
p.D528fs
c.1582_1583fs
2 papers
NM_001318510.2
p.R529C
c.1585C>T
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