Varaico: Literature-Extracted Genetic Variants

ACAD8

127 papers

RefSeq Summary

This gene encodes a member of the acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. The...

Pfam Domains

Acyl-CoA_dh_Naa 42–153UCSCAcyl-CoA dehydrogenase, N-terminal domain

Acyl-CoA_dh_Maa 157–251UCSCAcyl-CoA dehydrogenase, middle domain

Acyl-CoA_dh_1aa 263–413UCSCAcyl-CoA dehydrogenase, C-terminal domain

Gene Aliases

HGNC Name

acyl-CoA dehydrogenase family member 8

HGNC Previous Names

acyl-Coenzyme A dehydrogenase family, member 8; acyl-CoA dehydrogenase family, member 8

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014384.3

p.C116F

c.347G>T

Surrounding Variants

5 papers

NM_014384.3

p.C116*

c.348C>A

1 paper

NM_014384.3

p.S118C

c.352A>T

1 paper

NM_014384.3

p.T114I

c.341C>T

1 paper

NM_014384.3

p.T119I

c.356C>T

2 papers

NM_014384.3

p.A113T

c.337G>A

1 paper

NM_014384.3

p.T120I

c.359C>T

2 papers

NM_014384.3

p.T120delFs

c.360delA

1 paper

NM_014384.3

p.A121fs

c.361_362fs

1 paper

NM_014384.3

p.A111D

c.332C>A

1 paper

NM_014384.3

p.Y122C

c.365A>G

1 paper

NM_014384.3

p.I123K

c.368T>A

1 paper

NM_014384.3

p.V107delFs

c.319_320delGT