Varaico: Literature-Extracted Genetic Variants

HIBADH

28 papers

RefSeq Summary

This gene encodes a mitochondrial 3-hydroxyisobutyrate dehydrogenase enzyme. The encoded protein plays a critical role in the catabolism of L-valine by catalyzing the oxidation of 3-hydroxyisobutyrate...

Pfam Domains

NAD_binding_2aa 41–200UCSCNAD binding domain of 6-phosphogluconate dehydrogenase

NAD_binding_11aa 203–330UCSCNAD-binding of NADP-dependent 3-hydroxyisobutyrate dehydrogenase

Gene Aliases

HGNC Name

3-hydroxyisobutyrate dehydrogenase

HGNC Alias Symbol

NS5ATP1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 35 variants

2 papers

NM_152740.4

p.R34M

c.101G>T

2 papers

NM_152740.4

p.P72H

c.215C>A

2 papers

NM_152740.4

p.N195fs

c.583_584fs

2 papers

NM_152740.4

p.S194insFs

c.582dupC

1 paper

NM_152740.4

p.M1V

c.1A>G

1 paper

NM_152740.4

p.M1R

c.2T>G

1 paper

NM_152740.4

p.A2V

c.5C>T

1 paper

NM_152740.4

p.A3D

c.8C>A

1 paper

NM_152740.4

p.R6R

c.18G>T

1 paper

NM_152740.4

p.A25D

c.74C>A

1 paper

NM_152740.4

p.S27S

c.81C>T

1 paper

NM_152740.4

p.C32*

c.96T>A