Varaico: Literature-Extracted Genetic Variants

Gene:ACSL1
Variant:p.S135L

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.S135L
c.404C>T
Surrounding Variants
1 paper
NM_001995.5
p.K143*
c.427A>T
1 paper
NM_001995.5
p.G151S
c.451G>A
1 paper
NM_001995.5
p.G151G
c.453C>T
1 paper
NM_001995.5
p.E164A
c.491A>C
1 paper
NM_001995.5
p.G166R
c.496G>C
1 paper
NM_001995.5
p.G166R
c.496G>A
1 paper
NM_001995.5
p.A169V
c.506C>T
1 paper
NM_001995.5
p.V173L
c.517G>T
1 paper
NM_001995.5
p.T180N
c.539C>A
1 paper
NM_001995.5
p.Y188F
c.563A>T
1 paper
NM_001995.5
p.V190delFs
c.569_570delGA
1 paper
NM_001995.5
p.A193Splc
c.577+3A>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."