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.Y42del1

c.124_126delATA

Surrounding Variants

1 paper

NM_005896.4

p.D43H

c.127G>C

2 papers

NM_005896.4

p.D43N

c.127G>A

2 papers

NM_005896.4

p.D43A

c.128A>C

1 paper

NM_005896.4

p.D43E

c.129T>G

1 paper

NM_005896.4

p.D43E

c.129T>A

1 paper

NM_005896.4

p.Y42F

c.125A>T

1 paper

NM_005896.4

p.Y42Fs

c.125delinsTTFs

1 paper

NM_005896.4

p.Y42C

c.125A>G

1 paper

NM_005896.4

p.L44*

c.131T>A

1 paper

NM_005896.4

p.S41Splc

c.123-1G>C

2 papers

NM_005896.4

p.L44F

c.132A>T

1 paper

NM_005896.4

p.D43insFs

c.129dupT