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

1–12 of 250 variants

16 papers

NM_014384.3

p.R334C

c.1000C>T

13 papers

NM_014384.3

p.G96S

c.286G>A

11 papers

NM_014384.3

p.M152T

c.455T>C

11 papers

NM_014384.3

p.S171C

c.512C>G

11 papers

NM_014384.3

p.R302Q

c.905G>A

10 papers

NM_014384.3

p.A320T

c.958G>A

10 papers

NM_014384.3

p.G377S

c.1129G>A

9 papers

NM_014384.3

p.M128I

c.384G>A

9 papers

NM_014384.3

p.M128I

c.384G>C

8 papers

NM_014384.3

p.G97R

c.289G>A

8 papers

NM_014384.3

p.M128I

c.384G>T

8 papers

NM_014384.3

p.P148L

c.443C>T