Varaico: Literature-Extracted Genetic Variants

IDH1

4,356 papers

RefSeq Summary

Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor...

Pfam Domains

Iso_dhaa 9–401UCSCIsocitrate/isopropylmalate dehydrogenase

Gene Aliases

HGNC Name

isocitrate dehydrogenase (NADP(+)) 1

HGNC Previous Names

isocitrate dehydrogenase 1 (NADP+), soluble; isocitrate dehydrogenase 1 (NADP+); isocitrate dehydrogenase (NADP(+)) 1, cytosolic

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005896.4

p.G176V

c.527G>T

Surrounding Variants

3 papers

NM_005896.4

p.G176D

c.527G>A

1 paper

NM_005896.4

p.G176C

c.526G>T

1 paper

NM_005896.4

p.G176R

c.526G>C

1 paper

NM_005896.4

p.G177C

c.529G>T

4 papers

NM_005896.4

p.G175D

c.524G>A

1 paper

NM_005896.4

p.G177D

c.530G>A

2 papers

NM_005896.4

p.G175S

c.523G>A

1 paper

NM_005896.4

p.V178F

c.532G>T

73 papers

NM_005896.4

p.V178I

c.532G>A

1 paper

NM_005896.4

p.E174D

c.522A>T

1 paper

NM_005896.4

p.E174D

c.522A>C

1 paper

NM_005896.4

p.V178A

c.533T>C