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

4 papers

NM_005896.4

p.P95R

c.284C>G

Surrounding Variants

6 papers

NM_005896.4

p.P95L

c.284C>T

2 papers

NM_005896.4

p.P95Q

c.284C>A

1 paper

NM_005896.4

p.P95S

c.283C>T

1 paper

NM_005896.4

p.P95A

c.283C>G

1 paper

NM_005896.4

p.P95T

c.283C>A

1 paper

NM_005896.4

p.N96Y

c.286A>T

1 paper

NM_005896.4

p.N96D

c.286A>G

2 papers

NM_005896.4

p.N96H

c.286A>C

1 paper

NM_005896.4

p.S94fs

c.280_281fs

2 papers

NM_005896.4

p.S94L

c.281C>T

1 paper

NM_005896.4

p.S94*

c.281C>G

1 paper

NM_005896.4

p.S94*

c.281C>A