Varaico: Literature-Extracted Genetic Variants

Gene:ACSL5
Variant:p.G411R

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.G411R
c.1231G>C
Surrounding Variants
1 paper
NM_203379.2
p.G411R
c.1231G>A
1 paper
NM_203379.2
p.V415delFs
c.1243_1244delGT
1 paper
NM_203379.2
p.Q406_D407Splc
c.1218+1G>A
1 paper
NM_203379.2
p.Q406E
c.1216C>G
1 paper
NM_203379.2
p.T453K
c.1358C>A
1 paper
NM_203379.2
p.T453I
c.1358C>T
2 papers
NM_203379.2
p.G466E
c.1397G>A
1 paper
NM_203379.2
p.V467M
c.1399G>A
1 paper
NM_203379.2
p.K496Q
c.1486A>C
1 paper
NM_203379.2
p.K496R
c.1487A>G
1 paper
NM_203379.2
p.W520C
c.1560G>C
1 paper
NM_203379.2
p.W520C
c.1560G>T
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