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

8 papers

NM_014384.3

p.G97R

c.289G>A

Surrounding Variants

6 papers

NM_014384.3

p.G97R

c.289G>C

1 paper

NM_014384.3

p.G97E

c.290G>A

13 papers

NM_014384.3

p.G96S

c.286G>A

1 paper

NM_014384.3

p.Q92R

c.275A>G

1 paper

NM_014384.3

p.R102C

c.304C>T

1 paper

NM_014384.3

p.R102_S106delFs

c.305_318del14

1 paper

NM_014384.3

p.L103P

c.308T>C

2 papers

NM_014384.3

p.L103R

c.308T>G

1 paper

NM_014384.3

p.G88G

c.264G>C

1 paper

NM_014384.3

p.T105T

c.315C>A

1 paper

NM_014384.3

p.V107delFs

c.319_320delGT

2 papers

NM_014384.3

p.G87R

c.259G>A