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.L329S

c.986T>C

Surrounding Variants

1 paper

NM_000906.4

p.Y334S

c.1001A>C

1 paper

NM_000906.4

p.E321K

c.961G>A

1 paper

NM_000906.4

p.P320P

c.960C>T

1 paper

NM_000906.4

p.D318H

c.952G>C

8 papers

NM_000906.4

p.M341I

c.1023G>A

10 papers

NM_000906.4

p.M341I

c.1023G>C

8 papers

NM_000906.4

p.M341I

c.1023G>T

1 paper

NM_000906.4

p.T348N

c.1043C>A

1 paper

NM_000906.4

p.V364M

c.1090G>A

1 paper

NM_000906.4

p.G377A

c.1130G>C

1 paper

NM_000906.4

p.T381A

c.1141A>G

1 paper

NM_000906.4

p.R387*

c.1159C>T