Varaico: Literature-Extracted Genetic Variants

Gene:NPR2
Variant:p.R58W

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.R58W
c.172C>T
Surrounding Variants
1 paper
NM_003995.4
p.R58G
c.172C>G
1 paper
NM_003995.4
p.R58P
c.173G>C
2 papers
NM_003995.4
p.R58L
c.173G>T
2 papers
NM_003995.4
p.A59T
c.175G>A
1 paper
NM_003995.4
p.A59V
c.176C>T
1 paper
NM_003995.4
p.P61L
c.182C>T
1 paper
NM_003995.4
p.E54D
c.162G>C
1 paper
NM_003995.4
p.E54D
c.162G>T
1 paper
NM_003995.4
p.V62M
c.184G>A
1 paper
NM_003995.4
p.V62G
c.185T>G
1 paper
NM_003995.4
p.A52D
c.155C>A
1 paper
NM_003995.4
p.A52T
c.154G>A
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