Varaico: Literature-Extracted Genetic Variants

Gene:ACSL5
Variant:p.F138L

ACSL5

64 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 82–505UCSCAMP-binding enzyme

Gene Aliases

HGNC Name

acyl-CoA synthetase long chain family member 5

HGNC Previous Symbol

FACL5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_203379.2
p.F138L
c.412T>C
Surrounding Variants
1 paper
NM_203379.2
p.F138L
c.414T>A
1 paper
NM_203379.2
p.F138L
c.414T>G
1 paper
NM_203379.2
p.D132_Q133ins0
c.394_399dup6
1 paper
NM_203379.2
p.L118_G119del1
c.354_356delGGG
1 paper
NM_203379.2
p.S148F
c.443C>T
1 paper
NM_203379.2
p.D164G
c.491A>G
1 paper
NM_001387037.1
p.A226V
c.677C>T
1 paper
NM_203379.2
p.N176K
c.528C>A
1 paper
NM_203379.2
p.N176K
c.528C>G
2 papers
NM_203379.2
p.M182V
c.544A>G
1 paper
NM_203379.2
p.P204L
c.611C>T
1 paper
NM_203379.2
p.P214H
c.641C>A
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