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.E47G

c.140A>G

Surrounding Variants

1 paper

NM_005896.4

p.E47Fs

c.139delinsTTFs

1 paper

NM_005896.4

p.N48D

c.142A>G

1 paper

NM_005896.4

p.I46V

c.136A>G

1 paper

NM_005896.4

p.R49fs

c.145_146fs

12 papers

NM_005896.4

p.R49C

c.145C>T

1 paper

NM_005896.4

p.G45G

c.135C>G

1 paper

NM_005896.4

p.R49L

c.146G>T

1 paper

NM_005896.4

p.R49P

c.146G>C

3 papers

NM_005896.4

p.R49H

c.146G>A

1 paper

NM_005896.4

p.G45D

c.134G>A

1 paper

NM_005896.4

p.G45C

c.133G>T

1 paper

NM_005896.4

p.G45R

c.133G>C