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.I128V

c.382A>G

Surrounding Variants

1 paper

NM_005896.4

p.P127fs

c.379_380fs

1 paper

NM_005896.4

p.I128N

c.383T>A

1 paper

NM_005896.4

p.P127L

c.380C>T

2 papers

NM_005896.4

p.P127S

c.379C>T

1 paper

NM_005896.4

p.K126insFs

c.376dupA

1 paper

NM_005896.4

p.P127T

c.379C>A

1 paper

NM_005896.4

p.K126delFs

c.378delT

1 paper

NM_005896.4

p.W124_K126del3

c.370_377del9

1 paper

NM_005896.4

p.K126fs

c.376_377fs

1 paper

NM_005896.4

p.I129M

c.387C>G

3 papers

NM_005896.4

p.K126R

c.377A>G

1 paper

NM_005896.4

p.K126*

c.376A>T