Varaico: Literature-Extracted Genetic Variants

ACAD10

82 papers

RefSeq Summary

This gene encodes a member of the acyl-CoA dehydrogenase family of enzymes (ACADs), which participate in the beta-oxidation of fatty acids in mitochondria. The encoded enzyme contains a hydrolase doma...

Pfam Domains

Hydrolaseaa 42–225UCSChaloacid dehalogenase-like hydrolase

APHaa 287–540UCSCPhosphotransferase enzyme family

Acyl-CoA_dh_Naa 661–787UCSCAcyl-CoA dehydrogenase, N-terminal domain

Acyl-CoA_dh_Maa 791–892UCSCAcyl-CoA dehydrogenase, middle domain

Acyl-CoA_dh_1aa 904–1055UCSCAcyl-CoA dehydrogenase, C-terminal domain

Gene Aliases

HGNC Name

acyl-CoA dehydrogenase family member 10

HGNC Alias Symbol

MGC5601

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_025247.6

p.F167S

c.500T>C

Surrounding Variants

1 paper

NM_025247.6

p.K165Q

c.493A>C

1 paper

NM_025247.6

p.R146Q

c.437G>A

1 paper

NM_025247.6

p.R146W

c.436C>T

1 paper

NM_025247.6

p.Q144H

c.432A>C

1 paper

NM_025247.6

p.Q144H

c.432A>T

1 paper

NM_025247.6

p.A141S

c.421G>T

1 paper

NM_025247.6

p.R130*

c.388C>T

1 paper

NM_025247.6

p.T127I

c.380C>T

1 paper

NM_025247.6

p.D120N

c.358G>A

1 paper

NM_025247.6

p.M183_I186del4

c.547_557del12

1 paper

NM_025247.6

p.M183_I186delFs

c.548_558del11

1 paper

NM_025247.6

p.I96K

c.287T>A