Varaico: Literature-Extracted Genetic Variants

Gene:ACSL4
Variant:p.S214insFs

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.S214insFs
c.641_642insC
Surrounding Variants
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
1 paper
NM_001318510.2
p.L139F
c.417A>T
1 paper
NM_001318510.2
p.L139F
c.417A>C
1 paper
NM_001318510.2
p.Q127Q
c.381G>A
1 paper
NM_001318510.2
p.A125G
c.374C>G
1 paper
NM_001318510.2
p.M123_I124insFs
c.369_370ins5
1 paper
NM_001318510.2
p.C116_T118del0
c.346_354del9
1 paper
NM_001318510.2
p.F115V
c.343T>G
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