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

4 papers

NM_005896.4

p.A61A

c.183A>C

Surrounding Variants

2 papers

NM_005896.4

p.A61A

c.183A>T

1 paper

NM_005896.4

p.A61delFs

c.181_182delGC

2 papers

NM_005896.4

p.A61V

c.182C>T

1 paper

NM_005896.4

p.A61G

c.182C>G

1 paper

NM_005896.4

p.A61E

c.182C>A

2 papers

NM_005896.4

p.A61S

c.181G>T

1 paper

NM_005896.4

p.A61P

c.181G>C

1 paper

NM_005896.4

p.A51_D59del9

c.151_176del27

1 paper

NM_005896.4

p.A63S

c.187G>T

3 papers

NM_005896.4

p.A63T

c.187G>A

3 papers

NM_005896.4

p.A60V

c.179C>T

1 paper

NM_005896.4

p.A60P

c.178G>C