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.I551V

c.1651A>G

Surrounding Variants

1 paper

NM_032169.5

p.D592Y

c.1774G>T

1 paper

NM_032169.5

p.D592Y

c.1774G>T

1 paper

NM_032169.5

p.R607*

c.1819C>T

1 paper

NM_032169.5

p.P609S

c.1825C>T

1 paper

NM_032169.5

p.G616C

c.1846G>T

1 paper

NM_032169.5

p.R627C

c.1879C>T

1 paper

NM_032169.5

p.T639T

c.1917A>G

1 paper

NM_032169.5

p.A643V

c.1928C>T

1 paper

NM_032169.5

p.A646G

c.1937C>G

3 papers

NM_032169.5

p.A646D

c.1937C>A

1 paper

NM_032169.5

p.G541Splc

c.1622-7789C>T