Varaico: Literature-Extracted Genetic Variants

Gene:PPA1

PPA1

749 papers

RefSeq Summary

The protein encoded by this gene is a member of the inorganic pyrophosphatase (PPase) family. PPases catalyze the hydrolysis of pyrophosphate to inorganic phosphate, which is important for the phospha...

Pfam Domains

Pyrophosphataseaa 46–228UCSCInorganic pyrophosphatase

Gene Aliases

HGNC Name

inorganic pyrophosphatase 1

HGNC Alias Symbols

SID6-8061; Ppase; IOPPP; PP1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 288 variants
6 papers
NM_021129.4
p.D64N
c.190G>A
3 papers
NM_021129.4
p.D153A
c.458A>C
2 papers
NM_021129.4
p.M1V
c.1A>G
2 papers
NM_021129.4
p.M1insFs
c.1dupA
2 papers
NM_021129.4
p.M1_S2insFs
c.3_4insT
2 papers
NM_021129.4
p.M1I
c.3G>A
2 papers
NM_021129.4
p.F4L
c.12C>G
2 papers
NM_021129.4
p.S5G
c.13A>G
2 papers
NM_021129.4
p.E8D
c.24G>C
2 papers
NM_021129.4
p.A11G
c.32C>G
2 papers
NM_021129.4
p.E16D
c.48G>C
2 papers
NM_021129.4
p.Y17C
c.50A>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."