Varaico: Literature-Extracted Genetic Variants

Gene:ACSL1
Variant:p.L469L

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
2 papers
NM_001995.5
p.L469L
c.1407G>A
Surrounding Variants
1 paper
NM_001995.5
p.G473R
c.1417G>C
1 paper
NM_001995.5
p.G473R
c.1417G>A
1 paper
NM_001995.5
p.A477T
c.1429G>A
1 paper
NM_001995.5
p.E462A
c.1385A>C
1 paper
NM_001995.5
p.E456A
c.1367A>C
1 paper
NM_001995.5
p.T433K
c.1298C>A
1 paper
NM_001995.5
p.V428A
c.1283T>C
1 paper
NM_001995.5
p.R402H
c.1205G>A
1 paper
NM_001995.5
p.F392F
c.1176T>C
1 paper
NM_001995.5
p.P523Q
c.1568C>A
1 paper
NM_001995.5
p.A527V
c.1580C>T
1 paper
NM_001995.5
p.A529T
c.1585G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."