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.R330insFs

c.990dupG

Surrounding Variants

6 papers

NM_014384.3

p.R330W

c.988C>T

3 papers

NM_014384.3

p.R330Q

c.989G>A

1 paper

NM_014384.3

p.A329A

c.987G>T

1 paper

NM_014384.3

p.R330L

c.989G>T

2 papers

NM_014384.3

p.A329V

c.986C>T

1 paper

NM_014384.3

p.A329T

c.985G>A

2 papers

NM_014384.3

p.M332T

c.995T>C

1 paper

NM_014384.3

p.L326Q

c.977T>A

16 papers

NM_014384.3

p.R334C

c.1000C>T

1 paper

NM_014384.3

p.R325K

c.974G>A

1 paper

NM_014384.3

p.R325W

c.973A>T

1 paper

NM_014384.3

p.M322I

c.966G>A