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.A179A

c.537C>G

Surrounding Variants

1 paper

NM_005896.4

p.A179V

c.536C>T

1 paper

NM_005896.4

p.V178_A179delFs

c.534_535delCA

4 papers

NM_005896.4

p.M180V

c.538A>G

3 papers

NM_005896.4

p.M180I

c.540G>T

3 papers

NM_005896.4

p.M180I

c.540G>C

3 papers

NM_005896.4

p.M180I

c.540G>A

1 paper

NM_005896.4

p.V178A

c.533T>C

1 paper

NM_005896.4

p.G181W

c.541G>T

1 paper

NM_005896.4

p.G181V

c.542G>T

1 paper

NM_005896.4

p.V178F

c.532G>T

1 paper

NM_005896.4

p.G181A

c.542G>C

73 papers

NM_005896.4

p.V178I

c.532G>A