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.D220N

c.658G>A

Surrounding Variants

1 paper

NM_005896.4

p.D220H

c.658G>C

11 papers

NM_005896.4

p.D220G

c.659A>G

1 paper

NM_005896.4

p.Y219F

c.656A>T

1 paper

NM_005896.4

p.Y219C

c.656A>G

1 paper

NM_005896.4

p.Y219H

c.655T>C

1 paper

NM_005896.4

p.G221W

c.661G>T

1 paper

NM_005896.4

p.G221A

c.662G>C

8 papers

NM_005896.4

p.R222C

c.664C>T

1 paper

NM_005896.4

p.R222S

c.664C>A

1 paper

NM_005896.4

p.K217M

c.650A>T

1 paper

NM_005896.4

p.K217Q

c.649A>C

1 paper

NM_005896.4

p.L216P

c.647T>C