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

1–12 of 289 variants

35 papers

NM_002225.5

p.A311V

c.932C>T

18 papers

NM_002225.5

p.R50P

c.149G>C

14 papers

NM_002225.5

p.R50H

c.149G>A

13 papers

NM_002225.5

p.G123R

c.367G>A

13 papers

NM_002225.5

p.G123R

c.367G>C

13 papers

NM_002225.5

p.R395Q

c.1184G>A

13 papers

NM_002225.5

p.Y400C

c.1199A>G

9 papers

NM_002225.5

p.D69N

c.205G>A

8 papers

NM_002225.5

p.A4A

c.12G>C

8 papers

NM_002225.5

p.R392C

c.1174C>T

8 papers

NM_002225.5

p.R395*

c.1183C>T

7 papers

NM_002225.5

p.M1Fs

c.2delinsGGFs