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

13 papers

NM_002225.5

p.Y400C

c.1199A>G

Surrounding Variants

1 paper

NM_002225.5

p.I402M

c.1206A>G

1 paper

NM_002225.5

p.A397D

c.1190C>A

1 paper

NM_002225.5

p.A404S

c.1210G>T

1 paper

NM_002225.5

p.D396delFs

c.1188delT

1 paper

NM_002225.5

p.D396H

c.1186G>C

13 papers

NM_002225.5

p.R395Q

c.1184G>A

1 paper

NM_002225.5

p.R395L

c.1184G>T

3 papers

NM_002225.5

p.R395G

c.1183C>G

8 papers

NM_002225.5

p.R395*

c.1183C>T

3 papers

NM_002225.5

p.L394fs

c.1180_1181fs

1 paper

NM_002225.5

p.L394F

c.1180C>T

1 paper

NM_002225.5

p.L394delFs

c.1180_1181delCT