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.D54H

c.160G>C

Surrounding Variants

2 papers

NM_005896.4

p.D54Y

c.160G>T

2 papers

NM_005896.4

p.D54N

c.160G>A

1 paper

NM_005896.4

p.N53N

c.159C>T

3 papers

NM_005896.4

p.D54V

c.161A>T

1 paper

NM_005896.4

p.N53H

c.157A>C

1 paper

NM_005896.4

p.T52S

c.155C>G

1 paper

NM_005896.4

p.V56L

c.166G>C

1 paper

NM_005896.4

p.T52S

c.154A>T

1 paper

NM_005896.4

p.V56D

c.167T>A

3 papers

NM_005896.4

p.A51G

c.152C>G

1 paper

NM_005896.4

p.A51D

c.152C>A

4 papers

NM_005896.4

p.A51T

c.151G>A