Varaico: Literature-Extracted Genetic Variants

NPR1

173 papers

RefSeq Summary

Guanylyl cyclases, catalyzing the production of cGMP from GTP, are classified as soluble and membrane forms (Garbers and Lowe, 1994 [PubMed 7982997]). The membrane guanylyl cyclases, often termed guan...

Pfam Domains

ANF_receptoraa 54–416UCSCReceptor family ligand binding region

PK_Tyr_Ser-Thraa 543–801UCSCProtein tyrosine and serine/threonine kinase

Guanylate_cycaa 867–1053UCSCAdenylate and Guanylate cyclase catalytic domain

Gene Aliases

HGNC Name

natriuretic peptide receptor 1

HGNC Previous Symbols

ANPRA; NPRA

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000906.4

p.R573H

c.1718G>A

Surrounding Variants

1 paper

NM_000906.4

p.R573C

c.1717C>T

1 paper

NM_000906.4

p.R568H

c.1703G>A

1 paper

NM_000906.4

p.R578Q

c.1733G>A

1 paper

NM_000906.4

p.R568C

c.1702C>T

1 paper

NM_000906.4

p.L563F

c.1687C>T

1 paper

NM_000906.4

p.K560_G561Splc

c.1681-1G>A

1 paper

NM_000906.4

p.L544I

c.1630C>A

6 papers

NM_000906.4

p.G541S

c.1621G>A

1 paper

NM_000906.4

p.Y540*

c.1620C>A

5 papers

NM_000906.4

p.V590M

c.1768G>A

1 paper

NM_000906.4

p.D604fs

c.1810_1811fs

1 paper

NM_000906.4

p.D604insFs

c.1812dupC