Varaico: Literature-Extracted Genetic Variants

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.I195T

c.584T>C

Surrounding Variants

1 paper

NM_032169.5

p.V180I

c.538G>A

1 paper

NM_032169.5

p.Q179Q

c.537G>A

1 paper

NM_032169.5

p.C176F

c.527G>T

1 paper

NM_032169.5

p.Q162*

c.484C>T

1 paper

NM_032169.5

p.Y146C

c.437A>G

2 papers

NM_032169.5

p.R127Q

c.380G>A

2 papers

NM_032169.5

p.Q125*

c.373C>T

1 paper

NM_032169.5

p.T116_F118del0

c.346_354del9

1 paper

NM_032169.5

p.P100P

c.300C>T

1 paper

NM_032169.5

p.A93T

c.277G>A

1 paper

NM_032169.5

p.A81G

c.242C>G

1 paper

NM_032169.5

p.G63V

c.188G>T