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

2 papers

NM_005896.4

p.G181G

c.543G>C

Surrounding Variants

1 paper

NM_005896.4

p.G177_G181del0

c.531_542del12

1 paper

NM_005896.4

p.G181V

c.542G>T

1 paper

NM_005896.4

p.G181A

c.542G>C

4 papers

NM_005896.4

p.M182V

c.544A>G

1 paper

NM_005896.4

p.M180_G181insFs

c.540_541insG

1 paper

NM_005896.4

p.G181W

c.541G>T

3 papers

NM_005896.4

p.M180I

c.540G>T

1 paper

NM_005896.4

p.M182I

c.546G>T

3 papers

NM_005896.4

p.M180I

c.540G>C

1 paper

NM_005896.4

p.M182I

c.546G>C

3 papers

NM_005896.4

p.M180I

c.540G>A

1 paper

NM_005896.4

p.M182I

c.546G>A