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.H446H

c.1338C>T

Surrounding Variants

1 paper

NM_032169.5

p.L451L

c.1353G>A

1 paper

NM_032169.5

p.K425_E426Splc

c.1276-2A>G

1 paper

NM_032169.5

p.L419Fs

c.1257delinsTAFs

1 paper

NM_032169.5

p.P418R

c.1253C>G

2 papers

NM_032169.5

p.K414T

c.1241A>C

1 paper

NM_032169.5

p.E400D

c.1200G>T

1 paper

NM_032169.5

p.E400D

c.1200G>C

1 paper

NM_032169.5

p.E381K

c.1141G>A

2 papers

NM_032169.5

p.V362L

c.1084G>T

2 papers

NM_032169.5

p.V362L

c.1084G>C

1 paper

NM_032169.5

p.S360T

c.1079G>C

2 papers

NM_032169.5

p.R357*

c.1069C>T