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

7 papers

NM_014384.3

p.N138delFs

c.413delA

Surrounding Variants

7 papers

NM_014384.3

p.G137R

c.409G>A

6 papers

NM_014384.3

p.G137R

c.409G>C

1 paper

NM_014384.3

p.G137delFs

c.410_411delGA

4 papers

NM_014384.3

p.N138fs

c.412_413fs

7 papers

NM_014384.3

p.D134Y

c.400G>T

1 paper

NM_014384.3

p.A130T

c.388G>A

9 papers

NM_014384.3

p.M128I

c.384G>A

9 papers

NM_014384.3

p.M128I

c.384G>C

8 papers

NM_014384.3

p.M128I

c.384G>T

1 paper

NM_014384.3

p.P148_L149insFs

c.444_445dupGC

8 papers

NM_014384.3

p.P148L

c.443C>T

7 papers

NM_014384.3

p.P148P

c.444G>T