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

41 papers

NM_005896.4

p.G105G

c.315C>T

Surrounding Variants

1 paper

NM_005896.4

p.G105V

c.314G>T

1 paper

NM_005896.4

p.G105A

c.314G>C

3 papers

NM_005896.4

p.G105D

c.314G>A

1 paper

NM_005896.4

p.G105C

c.313G>T

3 papers

NM_005896.4

p.T106M

c.317C>T

1 paper

NM_005896.4

p.T106fs

c.316_317fs

1 paper

NM_005896.4

p.T106T

c.318G>C

1 paper

NM_005896.4

p.G104V

c.311G>T

2 papers

NM_005896.4

p.G104D

c.311G>A

1 paper

NM_005896.4

p.T106_V107delFs

c.316_319del4

1 paper

NM_005896.4

p.L103L

c.309G>A

1 paper

NM_005896.4

p.F108V

c.322T>G