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.T41S

c.122C>G

Surrounding Variants

1 paper

NM_025247.6

p.T41S

c.121A>T

1 paper

NM_025247.6

p.A44V

c.131C>T

1 paper

NM_025247.6

p.D48A

c.143A>C

3 papers

NM_025247.6

p.R33*

c.97C>T

1 paper

NM_025247.6

p.S31fs

c.91_92fs

1 paper

NM_025247.6

p.S31delFs

c.92delC

1 paper

NM_025247.6

p.H28Y

c.82C>T

1 paper

NM_025247.6

p.P57P

c.171A>G

1 paper

NM_025247.6

p.T24delFs

c.70_71delAC

1 paper

NM_025247.6

p.A61_A62delFs

c.183_186del4

1 paper

NM_025247.6

p.Q13Q

c.39G>A

2 papers

NM_025247.6

p.R11C

c.31C>T