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

1–12 of 71 variants

3 papers

NM_032169.5

p.A646D

c.1937C>A

2 papers

NM_032169.5

p.Q125*

c.373C>T

2 papers

NM_032169.5

p.R127Q

c.380G>A

2 papers

NM_032169.5

p.R357*

c.1069C>T

2 papers

NM_032169.5

p.V362L

c.1084G>T

2 papers

NM_032169.5

p.V362L

c.1084G>C

2 papers

NM_032169.5

p.K414T

c.1241A>C

2 papers

NM_032169.5

p.I551V

c.1651A>G

2 papers

NM_032169.5

p.R678C

c.2032C>T

1 paper

NM_032169.5

p.M1_K2insFs

c.3_4insT

1 paper

NM_032169.5

p.Q17*

c.49C>T

1 paper

NM_032169.5

p.E39K

c.115G>A