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

2 papers

NM_014384.3

p.Q386R

c.1157A>G

Surrounding Variants

1 paper

NM_014384.3

p.Q386*

c.1156C>T

6 papers

NM_014384.3

p.Q385R

c.1154A>G

2 papers

NM_014384.3

p.V388M

c.1162G>A

6 papers

NM_014384.3

p.Q386del1

c.1156_1158delCAG

2 papers

NM_014384.3

p.V384L

c.1150G>C

5 papers

NM_014384.3

p.R389W

c.1165C>T

3 papers

NM_014384.3

p.R389Q

c.1166G>A

1 paper

NM_014384.3

p.A383T

c.1147G>A

1 paper

NM_014384.3

p.D381N

c.1141G>A

1 paper

NM_014384.3

p.R392_V393del1

c.1176_1178delGGT

1 paper

NM_014384.3

p.R392R

c.1176G>A

7 papers

NM_014384.3

p.R392S

c.1176G>C