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

14 papers

NM_002225.5

p.R50H

c.149G>A

Surrounding Variants

18 papers

NM_002225.5

p.R50P

c.149G>C

2 papers

NM_002225.5

p.R50L

c.149G>T

1 paper

NM_002225.5

p.R50G

c.148C>G

3 papers

NM_002225.5

p.R50C

c.148C>T

3 papers

NM_002225.5

p.L49F

c.145C>T

1 paper

NM_002225.5

p.L49delFs

c.145delC

1 paper

NM_002225.5

p.T52I

c.155C>T

1 paper

NM_002225.5

p.Q48_L49Splc

c.145-4T>G

1 paper

NM_002225.5

p.M53T

c.158T>C

2 papers

NM_002225.5

p.M53I

c.159G>A

2 papers

NM_002225.5

p.M53I

c.159G>C

1 paper

NM_002225.5

p.M53I

c.159G>T