Varaico: Literature-Extracted Genetic Variants

Gene:ACSL1
Variant:p.E331A

ACSL1

88 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 97–520UCSCAMP-binding enzyme

Gene Aliases

HGNC Name

acyl-CoA synthetase long chain family member 1

HGNC Previous Symbol

FACL2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001995.5
p.E331A
c.992A>C
Surrounding Variants
1 paper
NM_001995.5
p.E327A
c.980A>C
1 paper
NM_001995.5
p.E327K
c.979G>A
1 paper
NM_001995.5
p.L322L
c.966C>T
1 paper
NM_001995.5
p.P321A
c.961C>G
1 paper
NM_001995.5
p.E331_C332Splc
c.993+36G>A
1 paper
NM_001995.5
p.F344insFs
c.1030_1031insC
1 paper
NM_001995.5
p.D296A
c.887A>C
1 paper
NM_001995.5
p.V294L
c.880G>T
1 paper
NM_001995.5
p.V294L
c.880G>C
1 paper
NM_001995.5
p.F392F
c.1176T>C
1 paper
NM_001995.5
p.R402H
c.1205G>A
1 paper
NM_001995.5
p.V428A
c.1283T>C
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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."