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.S119F

c.356C>T

Surrounding Variants

7 papers

NM_002225.5

p.G120R

c.358G>A

3 papers

NM_002225.5

p.G120R

c.358G>C

5 papers

NM_002225.5

p.G120E

c.359G>A

1 paper

NM_002225.5

p.R117R

c.351A>T

1 paper

NM_002225.5

p.R117Q

c.350G>A

3 papers

NM_002225.5

p.S116F

c.347C>T

13 papers

NM_002225.5

p.G123R

c.367G>A

13 papers

NM_002225.5

p.G123R

c.367G>C

1 paper

NM_002225.5

p.G123E

c.368G>A

2 papers

NM_002225.5

p.E114Q

c.340G>C

1 paper

NM_002225.5

p.S125N

c.374G>A

1 paper

NM_002225.5

p.Y126N

c.376T>A