Varaico: Literature-Extracted Genetic Variants

Gene:ACSL5
Variant:p.R671Q

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.R671Q
c.2012G>A
Surrounding Variants
1 paper
NM_203379.2
p.L643I
c.1927C>A
1 paper
NM_203379.2
p.V638V
c.1914C>T
2 papers
NM_016234.4
p.Q693_V694Splc
c.2079+7G>A
1 paper
NM_203379.2
p.R540P
c.1619G>C
1 paper
NM_203379.2
p.P531L
c.1592C>T
1 paper
NM_016234.4
p.G583D
c.1748G>A
1 paper
NM_203379.2
p.W520C
c.1560G>C
1 paper
NM_203379.2
p.W520C
c.1560G>T
1 paper
NM_203379.2
p.K496R
c.1487A>G
1 paper
NM_203379.2
p.K496Q
c.1486A>C
1 paper
NM_203379.2
p.V467M
c.1399G>A
2 papers
NM_203379.2
p.G466E
c.1397G>A
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