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

1–12 of 172 variants

10 papers

NM_000906.4

p.M341I

c.1023G>C

8 papers

NM_000906.4

p.M341I

c.1023G>A

8 papers

NM_000906.4

p.M341I

c.1023G>T

6 papers

NM_000906.4

p.G541S

c.1621G>A

6 papers

NM_000906.4

p.E967K

c.2899G>A

5 papers

NM_000906.4

p.V590M

c.1768G>A

5 papers

NM_000906.4

p.R939Q

c.2816G>A

4 papers

NM_000906.4

p.M235T

c.704T>C

3 papers

NM_000906.4

p.R6S

c.16C>A

3 papers

NM_000906.4

p.E613K

c.1837G>A

3 papers

NM_000906.4

p.L1034F

c.3100C>T

2 papers

NM_000906.4

p.A32T

c.94G>A