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.K645E

c.1933A>G

Surrounding Variants

1 paper

NM_000906.4

p.N641S

c.1922A>G

1 paper

NM_000906.4

p.E627D

c.1881G>C

1 paper

NM_000906.4

p.E627D

c.1881G>T

1 paper

NM_000906.4

p.N626N

c.1878T>C

1 paper

NM_000906.4

p.N652I

c.1955A>T

2 papers

NM_000906.4

p.V667M

c.1999G>A

1 paper

NM_000906.4

p.R671C

c.2011C>T

1 paper

NM_000906.4

p.G680V

c.2039G>T

1 paper

NM_000906.4

p.S683C

c.2047A>T

1 paper

NM_000906.4

p.E690Q

c.2068G>C

2 papers

NM_000906.4

p.H693Y

c.2077C>T

1 paper

NM_000906.4

p.R617C

c.1849C>T