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.L299F

c.895C>T

Surrounding Variants

1 paper

NM_014384.3

p.R296Q

c.887G>A

2 papers

NM_014384.3

p.R302W

c.904C>T

11 papers

NM_014384.3

p.R302Q

c.905G>A

3 papers

NM_014384.3

p.Q304L

c.911A>T

1 paper

NM_014384.3

p.F305insFs

c.915dupT

1 paper

NM_014384.3

p.F305S

c.914T>C

1 paper

NM_014384.3

p.G306R

c.916G>A

1 paper

NM_014384.3

p.S291F

c.872C>T

1 paper

NM_014384.3

p.A290T

c.868G>A

7 papers

NM_014384.3

p.H289Q

c.867C>A

4 papers

NM_014384.3

p.H289Q

c.867C>G

1 paper

NM_014384.3

p.A288S

c.862G>T