Varaico: Literature-Extracted Genetic Variants

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

1 paper

NM_003995.4

p.Q241L

c.722A>T

Surrounding Variants

1 paper

NM_003995.4

p.A240insFs

c.719_720ins4

2 papers

NM_003995.4

p.R242K

c.725G>A

1 paper

NM_003995.4

p.E243K

c.727G>A

1 paper

NM_003995.4

p.N244I

c.731A>T

1 paper

NM_003995.4

p.L238H

c.713T>A

1 paper

NM_003995.4

p.L238F

c.712C>T

1 paper

NM_003995.4

p.N247D

c.739A>G

1 paper

NM_003995.4

p.H234Q

c.702T>A

1 paper

NM_003995.4

p.H234Q

c.702T>G

1 paper

NM_003995.4

p.H234R

c.701A>G

1 paper

NM_003995.4

p.G248A

c.743G>C

1 paper

NM_003995.4

p.Y250delFs

c.748delT