Varaico: Literature-Extracted Genetic Variants

Gene:ACSL4
Variant:p.S346_I354del9

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.S346_I354del9
c.1036_1061del27
Surrounding Variants
1 paper
NM_001318510.2
p.E350V
c.1049A>T
1 paper
NM_001318510.2
p.G362G
c.1086G>A
1 paper
NM_001318510.2
p.Q369_I370ins5
c.1105_1109ins15
1 paper
NM_001318510.2
p.R339K
c.1016G>A
1 paper
NM_001318510.2
p.G373*
c.1117G>T
1 paper
NM_001318510.2
p.I336V
c.1006A>G
1 paper
NM_001318510.2
p.E335D
c.1005A>T
1 paper
NM_001318510.2
p.E335D
c.1005A>C
2 papers
NM_001318510.2
p.P334_E335Splc
c.1003-2A>G
2 papers
NM_001318510.2
p.L381Splc
c.1143-2A>G
1 paper
NM_001318510.2
p.L381L
c.1143G>T
1 paper
NM_001318510.2
p.K388R
c.1163A>G
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