Varaico: Literature-Extracted Genetic Variants

Gene:ACSL1
Variant:p.G539W

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.G539W
c.1615G>T
Surrounding Variants
1 paper
NM_001995.5
p.A529T
c.1585G>A
1 paper
NM_001995.5
p.A527V
c.1580C>T
1 paper
NM_001995.5
p.P523Q
c.1568C>A
1 paper
NM_001995.5
p.A563T
c.1687G>A
1 paper
NM_001995.5
p.A569_P570del2
c.1705_1709del6
1 paper
NM_001995.5
p.R579Q
c.1736G>A
1 paper
NM_001995.5
p.L593L
c.1779G>T
1 paper
NM_001995.5
p.A477T
c.1429G>A
1 paper
NM_001995.5
p.G473R
c.1417G>C
1 paper
NM_001995.5
p.G473R
c.1417G>A
2 papers
NM_001995.5
p.L469L
c.1407G>A
1 paper
NM_001995.5
p.E462A
c.1385A>C
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