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

3 papers

NM_005896.4

p.Q138_Y139Splc

c.414+9T>A

Surrounding Variants

1 paper

NM_005896.4

p.Q138_Y139Splc

c.414+1G>A

1 paper

NM_005896.4

p.Q138H

c.414A>T

1 paper

NM_005896.4

p.Q138*

c.412C>T

1 paper

NM_005896.4

p.Q138K

c.412C>A

1 paper

NM_005896.4

p.D137fs

c.409_410fs

1 paper

NM_005896.4

p.D137E

c.411T>G

1 paper

NM_005896.4

p.D137E

c.411T>A

2 papers

NM_005896.4

p.G136delFs

c.408delC

2 papers

NM_005896.4

p.D137N

c.409G>A

2 papers

NM_005896.4

p.G136V

c.407G>T

1 paper

NM_005896.4

p.G136W

c.406G>T

2 papers

NM_005896.4

p.G136R

c.406G>C