Varaico: Literature-Extracted Genetic Variants

Gene:ACSL4
Variant:p.I314_K315insFs

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.I314_K315insFs
c.942_943insA
Surrounding Variants
1 paper
NM_001318510.2
p.S312I
c.935G>T
2 papers
NM_001318510.2
p.K316insFs
c.948dupA
1 paper
NM_001318510.2
p.K316delFs
c.947_948delTT
1 paper
NM_001318510.2
p.K319_G320insFs
c.957_958insT
2 papers
NM_001318510.2
p.P334L
c.1001C>T
NM_022977.3
p.P375L
c.1124C>T
1 paper
NM_022977.3
p.S344P
c.1030T>C
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
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."