Varaico: Literature-Extracted Genetic Variants

Gene:ACSL4
Variant:p.S344P

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.S344P
c.1030T>C
Surrounding Variants
1 paper
NM_001318510.2
p.G269Splc
c.806+3A>G
1 paper
NM_001318510.2
p.L254L
c.760T>C
1 paper
NM_001318510.2
p.R243Q
c.728G>A
1 paper
NM_001318510.2
p.R243*
c.727C>T
1 paper
NM_001318510.2
p.T237A
c.709A>G
1 paper
NM_001318510.2
p.V234I
c.700G>A
1 paper
NM_001318510.2
p.S214insFs
c.641_642insC
1 paper
NM_001318510.2
p.V209A
c.626T>C
1 paper
NM_001318510.2
p.P198H
c.593C>A
1 paper
NM_001318510.2
p.L175V
c.523T>G
1 paper
NM_001318510.2
p.G151insFs
c.451dupG
1 paper
NM_001318510.2
p.V149L
c.445G>C
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