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

2 papers

NM_032169.5

p.R678C

c.2032C>T

Surrounding Variants

1 paper

NM_032169.5

p.I679T

c.2036T>C

1 paper

NM_032169.5

p.T697N

c.2090C>A

1 paper

NM_032169.5

p.G699D

c.2096G>A

1 paper

NM_032169.5

p.R716Q

c.2147G>A

1 paper

NM_032169.5

p.P739L

c.2216C>T

1 paper

NM_032169.5

p.L750F

c.2250G>T

1 paper

NM_032169.5

p.L750F

c.2250G>C

1 paper

NM_032169.5

p.D754G

c.2261A>G

1 paper

NM_032169.5

p.I780Fs

c.2339delinsCTFs