Varaico: Literature-Extracted Genetic Variants

Gene:ACSL1
Variant:p.Q101R

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.Q101R
c.302A>G
Surrounding Variants
1 paper
NM_001995.5
p.S78R
c.234C>A
1 paper
NM_001995.5
p.L75delFs
c.224_225delTA
1 paper
NM_001995.5
p.S73Y
c.218C>A
1 paper
NM_001995.5
p.R71Q
c.212G>A
1 paper
NM_001995.5
p.S67_G68ins1
c.201_202insAGT
1 paper
NM_001995.5
p.G66S
c.196G>A
1 paper
NM_001995.5
p.A65_G66Splc
c.196-6T>C
1 paper
NM_001995.5
p.P114R
c.341C>G
1 paper
NM_001995.5
p.S135L
c.404C>T
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
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