Varaico: Literature-Extracted Genetic Variants

Gene:IDH2
Variant:p.H175Q

IDH2

2,456 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 45–441UCSCIsocitrate/isopropylmalate dehydrogenase

Gene Aliases

HGNC Name

isocitrate dehydrogenase (NADP(+)) 2

HGNC Alias Symbol

IDH-2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002168.4
p.H175Q
c.525T>A
Surrounding Variants
1 paper
NM_002168.4
p.H175Q
c.525T>G
1 paper
NM_002168.4
p.H175delFs
c.524delT
1 paper
NM_002168.4
p.G176ins2
c.526_527ins6
1 paper
NM_002168.4
p.G176D
c.527G>A
1 paper
NM_002168.4
p.H175Y
c.523C>T
1 paper
NM_002168.4
p.H175N
c.523C>A
2 papers
NM_002168.4
p.G176G
c.528C>T
1 paper
NM_002168.4
p.D177N
c.529G>A
2 papers
NM_002168.4
p.A174V
c.521C>T
1 paper
NM_002168.4
p.A174D
c.521C>A
1 paper
NM_002168.4
p.D177A
c.530A>C
3 papers
NM_002168.4
p.H173H
c.519C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."