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.E84delFs

c.252delC

Surrounding Variants

1 paper

NM_005896.4

p.E85G

c.254A>G

1 paper

NM_005896.4

p.E85E

c.255G>A

1 paper

NM_005896.4

p.E85K

c.253G>A

1 paper

NM_005896.4

p.E85fs

c.253_254fs

1 paper

NM_005896.4

p.F86I

c.256T>A

1 paper

NM_005896.4

p.F86S

c.257T>C

1 paper

NM_005896.4

p.E84K

c.250G>A

1 paper

NM_005896.4

p.F86_K87insFs

c.258_259insA

1 paper

NM_005896.4

p.E85_F86del2

c.253_257del6

1 paper

NM_005896.4

p.V83D

c.248T>A

1 paper

NM_005896.4

p.V83delFs

c.247delC

2 papers

NM_005896.4

p.V83F

c.247G>T