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

2 papers

NM_014384.3

p.G87R

c.259G>A

Surrounding Variants

2 papers

NM_014384.3

p.G87R

c.259G>C

1 paper

NM_014384.3

p.F86L

c.258C>A

1 paper

NM_014384.3

p.F86L

c.258C>G

1 paper

NM_014384.3

p.F86delFs

c.258delC

1 paper

NM_014384.3

p.F86L

c.256T>C

1 paper

NM_014384.3

p.F86fs

c.256_257fs

1 paper

NM_014384.3

p.G88G

c.264G>C

1 paper

NM_014384.3

p.A82fs

c.244_245fs

1 paper

NM_014384.3

p.Q92R

c.275A>G

1 paper

NM_014384.3

p.A82delFs

c.244_245delGC

1 paper

NM_014384.3

p.A81E

c.242C>A

3 papers

NM_014384.3

p.R79Q

c.236G>A