Varaico: Literature-Extracted Genetic Variants

Gene:PPA2
Variant:p.R100W

PPA2

74 papers

RefSeq Summary

The protein encoded by this gene is localized to the mitochondrion, is highly similar to members of the inorganic pyrophosphatase (PPase) family, and contains the signature sequence essential for the ...

Pfam Domains

Pyrophosphataseaa 94–276UCSCInorganic pyrophosphatase

Gene Aliases

HGNC Name

inorganic pyrophosphatase 2

HGNC Alias Symbol

FLJ20459

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_176869.3
p.R100W
c.298C>T
Surrounding Variants
1 paper
NM_176869.3
p.P99A
c.295C>G
1 paper
NM_176869.3
p.T102R
c.305C>G
2 papers
NM_176869.3
p.E97G
c.290A>G
8 papers
NM_176869.3
p.M94V
c.280A>G
1 paper
NM_176869.3
p.M106V
c.316A>G
8 papers
NM_176869.3
p.M106I
c.318G>T
4 papers
NM_176869.3
p.M106I
c.318G>C
4 papers
NM_176869.3
p.M106I
c.318G>A
1 paper
NM_176869.3
p.A109T
c.325G>A
1 paper
NM_176869.3
p.T110I
c.329C>T
1 paper
NM_176869.3
p.K111M
c.332A>T
4 papers
NM_176869.3
p.M114V
c.340A>G
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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."