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

10 papers

NM_014384.3

p.G377S

c.1129G>A

Surrounding Variants

1 paper

NM_014384.3

p.G377D

c.1130G>A

1 paper

NM_014384.3

p.G377V

c.1130G>T

1 paper

NM_014384.3

p.G374R

c.1120G>A

1 paper

NM_014384.3

p.G374R

c.1120G>C

1 paper

NM_014384.3

p.G375insFs

c.1123_1124insG

1 paper

NM_014384.3

p.D381N

c.1141G>A

1 paper

NM_014384.3

p.A383T

c.1147G>A

2 papers

NM_014384.3

p.V384L

c.1150G>C

6 papers

NM_014384.3

p.Q386del1

c.1156_1158delCAG

6 papers

NM_014384.3

p.Q385R

c.1154A>G

1 paper

NM_014384.3

p.Q386*

c.1156C>T

2 papers

NM_014384.3

p.Q386R

c.1157A>G