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

11 papers

NM_014384.3

p.M152T

c.455T>C

Surrounding Variants

1 paper

NM_014384.3

p.C150_T151delFs

c.449_452del4

1 paper

NM_014384.3

p.A156T

c.466G>A

7 papers

NM_014384.3

p.P148P

c.444G>T

1 paper

NM_014384.3

p.A156S

c.466G>T

8 papers

NM_014384.3

p.P148L

c.443C>T

1 paper

NM_014384.3

p.P148_L149insFs

c.444_445dupGC

4 papers

NM_014384.3

p.Y158C

c.473A>G

4 papers

NM_014384.3

p.T161A

c.481A>G

2 papers

NM_014384.3

p.P163_G164insCT

c.487_491ins6

1 paper

NM_014384.3

p.P163S

c.487C>T

1 paper

NM_014384.3

p.G164R

c.490G>A

4 papers

NM_014384.3

p.N138fs

c.412_413fs