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

5 papers

NM_000906.4

p.R939Q

c.2816G>A

Surrounding Variants

1 paper

NM_000906.4

p.G932R

c.2794G>A

1 paper

NM_000906.4

p.G932R

c.2794G>C

1 paper

NM_000906.4

p.A949V

c.2846C>T

1 paper

NM_000906.4

p.R957C

c.2869C>T

1 paper

NM_000906.4

p.R964Q

c.2891G>A

6 papers

NM_000906.4

p.E967K

c.2899G>A

1 paper

NM_000906.4

p.E1006A

c.3017A>C

2 papers

NM_000906.4

p.V883M

c.2647G>A

1 paper

NM_000906.4

p.R863H

c.2588G>A

1 paper

NM_000906.4

p.R843C

c.2527C>T

1 paper

NM_000906.4

p.N825D

c.2473A>G

1 paper

NM_000906.4

p.Y823*

c.2469C>A