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

11 papers

NM_014384.3

p.S171C

c.512C>G

Surrounding Variants

1 paper

NM_014384.3

p.S171F

c.512C>T

1 paper

NM_014384.3

p.L172I

c.514C>A

1 paper

NM_014384.3

p.L173P

c.518T>C

1 paper

NM_014384.3

p.A169T

c.505G>A

4 papers

NM_014384.3

p.S167delFs

c.500delG

3 papers

NM_014384.3

p.S167fs

c.499_500fs

1 paper

NM_014384.3

p.A176T

c.526G>A

1 paper

NM_014384.3

p.K177E

c.529A>G

2 papers

NM_014384.3

p.L185F

c.553C>T

1 paper

NM_014384.3

p.L185R

c.554T>G

1 paper

NM_014384.3

p.L185_G187Fs

c.554_559delinsTGTGFs

3 papers

NM_014384.3

p.N186S

c.557A>G