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.V125G

c.374T>G

Surrounding Variants

2 papers

NM_005896.4

p.V125I

c.373G>A

1 paper

NM_005896.4

p.W124C

c.372G>T

1 paper

NM_005896.4

p.W124C

c.372G>C

2 papers

NM_005896.4

p.W124*

c.372G>A

1 paper

NM_005896.4

p.K126*

c.376A>T

1 paper

NM_005896.4

p.K126E

c.376A>G

1 paper

NM_005896.4

p.W124L

c.371G>T

4 papers

NM_005896.4

p.W124*

c.371G>A

3 papers

NM_005896.4

p.K126R

c.377A>G

1 paper

NM_005896.4

p.K126fs

c.376_377fs

2 papers

NM_005896.4

p.P127S

c.379C>T

1 paper

NM_005896.4

p.K126insFs

c.376dupA