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.L106R

c.317T>G

Surrounding Variants

1 paper

NM_002225.5

p.L106delFs

c.317_318delTG

1 paper

NM_002225.5

p.Y105insFs

c.314_315insTT

5 papers

NM_002225.5

p.Y105_L106delFs

c.315_316delCC

1 paper

NM_002225.5

p.H108Y

c.322C>T

1 paper

NM_002225.5

p.L103V

c.307C>G

1 paper

NM_002225.5

p.G102delFs

c.305delG

1 paper

NM_002225.5

p.V111L

c.331G>C

1 paper

NM_002225.5

p.V111L

c.331G>T

2 papers

NM_002225.5

p.E114Q

c.340G>C

1 paper

NM_002225.5

p.Y98C

c.293A>G

3 papers

NM_002225.5

p.S116F

c.347C>T

1 paper

NM_002225.5

p.R117Q

c.350G>A