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.L356L

c.1068C>A

Surrounding Variants

1 paper

NM_014384.3

p.T359I

c.1076C>T

1 paper

NM_014384.3

p.M353T

c.1058T>C

1 paper

NM_014384.3

p.S352F

c.1055C>T

1 paper

NM_014384.3

p.C362Y

c.1085G>A

1 paper

NM_014384.3

p.C362F

c.1085G>T

1 paper

NM_014384.3

p.C351R

c.1051T>C

1 paper

NM_014384.3

p.L350S

c.1049T>C

6 papers

NM_014384.3

p.A364_I365Splc

c.1092+1G>A

1 paper

NM_014384.3

p.E342*

c.1024G>T

16 papers

NM_014384.3

p.R334C

c.1000C>T

2 papers

NM_014384.3

p.M332T

c.995T>C

3 papers

NM_014384.3

p.R330Q

c.989G>A