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.D59Y

c.175G>T

Surrounding Variants

1 paper

NM_005896.4

p.D59H

c.175G>C

1 paper

NM_005896.4

p.D59N

c.175G>A

1 paper

NM_005896.4

p.K58R

c.173A>G

1 paper

NM_005896.4

p.A60P

c.178G>C

3 papers

NM_005896.4

p.A60V

c.179C>T

1 paper

NM_005896.4

p.V56_T57delFs

c.166_170del5

1 paper

NM_005896.4

p.A51_D59del9

c.151_176del27

2 papers

NM_005896.4

p.T57I

c.170C>T

2 papers

NM_005896.4

p.A61S

c.181G>T

1 paper

NM_005896.4

p.A61P

c.181G>C

2 papers

NM_005896.4

p.A61V

c.182C>T

1 paper

NM_005896.4

p.A61G

c.182C>G