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.C73fs

c.217_218fs

Surrounding Variants

2 papers

NM_005896.4

p.C73S

c.218G>C

1 paper

NM_005896.4

p.C73S

c.217T>A

1 paper

NM_005896.4

p.A74V

c.221C>T

1 paper

NM_005896.4

p.A74G

c.221C>G

1 paper

NM_005896.4

p.N68_V71del4

c.202_212del12

1 paper

NM_005896.4

p.K72I

c.215A>T

1 paper

NM_005896.4

p.T75A

c.223A>G

1 paper

NM_005896.4

p.T75P

c.223A>C

1 paper

NM_005896.4

p.K72T

c.215A>C

1 paper

NM_005896.4

p.K72delins

c.214_215delinsTG

1 paper

NM_005896.4

p.T75I

c.224C>T

1 paper

NM_005896.4

p.K72Q

c.214A>C