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.L150P

c.449T>C

Surrounding Variants

1 paper

NM_002225.5

p.P151L

c.452C>T

2 papers

NM_002225.5

p.K148R

c.443A>G

6 papers

NM_002225.5

p.K152_L153Splc

c.456+2T>C

1 paper

NM_002225.5

p.E147*

c.439G>T

2 papers

NM_002225.5

p.K146E

c.436A>G

1 paper

NM_002225.5

p.Q145*

c.433C>T

1 paper

NM_002225.5

p.N142D

c.424A>G

1 paper

NM_002225.5

p.G141R

c.421G>A

2 papers

NM_002225.5

p.R139C

c.415C>T

1 paper

NM_002225.5

p.Q136*

c.406C>T

1 paper

NM_002225.5

p.I134V

c.400A>G

1 paper

NM_002225.5

p.N131del1

c.391_392delAAC