Varaico: Literature-Extracted Genetic Variants

Gene:NPR2
Variant:p.R222H

NPR2

224 papers

RefSeq Summary

This gene encodes natriuretic peptide receptor B, one of two integral membrane receptors for natriuretic peptides. Both NPR1 and NPR2 contain five functional domains: an extracellular ligand-binding d...

Pfam Domains

ANF_receptoraa 44–399UCSCReceptor family ligand binding region
PK_Tyr_Ser-Thraa 518–786UCSCProtein tyrosine and serine/threonine kinase
Guanylate_cycaa 852–1038UCSCAdenylate and Guanylate cyclase catalytic domain

Gene Aliases

HGNC Name

natriuretic peptide receptor 2

HGNC Previous Symbols

ANPRB; NPRB; AMDM

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_003995.4
p.R222H
c.665G>A
Surrounding Variants
1 paper
NM_003995.4
p.R222G
c.664C>G
2 papers
NM_003995.4
p.R222C
c.664C>T
2 papers
NM_003995.4
p.G221R
c.661G>A
2 papers
NM_003995.4
p.G221R
c.661G>C
1 paper
NM_003995.4
p.N220S
c.659A>G
1 paper
NM_003995.4
p.A219T
c.655G>A
1 paper
NM_003995.4
p.R218Q
c.653G>A
1 paper
NM_003995.4
p.R218W
c.652C>T
2 papers
NM_003995.4
p.I217F
c.649A>T
1 paper
NM_003995.4
p.A213T
c.637G>A
1 paper
NM_003995.4
p.E211V
c.632A>T
2 papers
NM_003995.4
p.E211K
c.631G>A
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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."