Varaico: Literature-Extracted Genetic Variants

IVD

269 papers

RefSeq Summary

Isovaleryl-CoA dehydrogenase (IVD) is a mitochondrial matrix enzyme that catalyzes the third step in leucine catabolism. The genetic deficiency of IVD results in an accumulation of isovaleric acid, wh...

Pfam Domains

Acyl-CoA_dh_Naa 46–160UCSCAcyl-CoA dehydrogenase, N-terminal domain

Acyl-CoA_dh_Maa 131–228UCSCAcyl-CoA dehydrogenase, middle domain

Acyl-CoA_dh_Maa 164–261UCSCAcyl-CoA dehydrogenase, middle domain

Acyl-CoA_dh_1aa 240–388UCSCAcyl-CoA dehydrogenase, C-terminal domain

Gene Aliases

HGNC Name

isovaleryl-CoA dehydrogenase

HGNC Alias Symbols

ACAD2; IVDH

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002225.5

p.M295L

c.883A>T

Surrounding Variants

1 paper

NM_002225.5

p.M295L

c.883A>C

1 paper

NM_002225.5

p.M295V

c.883A>G

1 paper

NM_002225.5

p.M295T

c.884T>C

4 papers

NM_002225.5

p.G293insFs

c.879dupG

2 papers

NM_002225.5

p.G293Splc

c.879-2A>G

4 papers

NM_002225.5

p.A297V

c.890C>T

1 paper

NM_002225.5

p.L306P

c.917T>C

1 paper

NM_002225.5

p.R309K

c.926G>A

35 papers

NM_002225.5

p.A311V

c.932C>T

4 papers

NM_002225.5

p.K315_I316del2

c.943_947del6

2 papers

NM_002225.5

p.K315Q

c.943A>C

1 paper

NM_002225.5

p.G317_H318del2

c.949_953del6