Varaico: Literature-Extracted Genetic Variants

Gene:ACAD11
Variant:p.G541Splc

ACAD11

64 papers

RefSeq Summary

This gene encodes an acyl-CoA dehydrogenase enzyme with a preference for carbon chain lengths between 20 and 26. Naturally occurring read-through transcription occurs between the upstream gene NPHP3 (...

Pfam Domains

APHaa 45–288UCSCPhosphotransferase enzyme family
Acyl-CoA_dh_Naa 376–499UCSCAcyl-CoA dehydrogenase, N-terminal domain
Acyl-CoA_dh_Maa 503–606UCSCAcyl-CoA dehydrogenase, middle domain
Acyl-CoA_dh_1aa 618–769UCSCAcyl-CoA dehydrogenase, C-terminal domain

Gene Aliases

HGNC Name

acyl-CoA dehydrogenase family member 11

HGNC Alias Symbol

FLJ12592

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032169.5
p.G541Splc
c.1622-7789C>T
Surrounding Variants
2 papers
NM_032169.5
p.I551V
c.1651A>G
1 paper
NM_032169.5
p.D592Y
c.1774G>T
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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."