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.T98S

c.293C>G

Surrounding Variants

1 paper

NM_005896.4

p.T98I

c.293C>T

1 paper

NM_005896.4

p.T98N

c.293C>A

1 paper

NM_005896.4

p.G97_T98insFs

c.291_292insT

1 paper

NM_005896.4

p.I99K

c.296T>A

2 papers

NM_005896.4

p.G97V

c.290G>T

1 paper

NM_005896.4

p.G97A

c.290G>C

28 papers

NM_005896.4

p.G97D

c.290G>A

1 paper

NM_005896.4

p.G97R

c.289G>C

30 papers

NM_005896.4

p.I99M

c.297A>G

1 paper

NM_005896.4

p.N96fs

c.286_287fs

1 paper

NM_005896.4

p.N96K

c.288T>G

1 paper

NM_005896.4

p.N96K

c.288T>A