Varaico: Literature-Extracted Genetic Variants

Gene:ACSL4
Variant:p.P461L

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_022977.3
p.P461L
c.1382C>T
Surrounding Variants
1 paper
NM_001318510.2
p.E429A
c.1286A>C
1 paper
NM_001318510.2
p.A433T
c.1297G>A
1 paper
NM_001318510.2
p.V436F
c.1306G>T
1 paper
NM_001318510.2
p.G392R
c.1174G>A
1 paper
NM_001318510.2
p.L391P
c.1172T>C
1 paper
NM_001318510.2
p.K388R
c.1163A>G
1 paper
NM_001318510.2
p.L381L
c.1143G>T
2 papers
NM_001318510.2
p.L381Splc
c.1143-2A>G
1 paper
NM_001318510.2
p.G373*
c.1117G>T
1 paper
NM_001318510.2
p.Q369_I370ins5
c.1105_1109ins15
1 paper
NM_001318510.2
p.G362G
c.1086G>A
1 paper
NM_001318510.2
p.S346_I354del9
c.1036_1061del27
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