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.G117R

c.349G>C

Surrounding Variants

1 paper

NM_000906.4

p.W106fs

c.316_317fs

1 paper

NM_000906.4

p.W106delFs

c.317delG

1 paper

NM_000906.4

p.R133W

c.397C>T

1 paper

NM_000906.4

p.A100V

c.299C>T

1 paper

NM_000906.4

p.V134I

c.400G>A

1 paper

NM_000906.4

p.P135R

c.404C>G

1 paper

NM_000906.4

p.A96_A97insFs

c.288_289ins5

1 paper

NM_000906.4

p.A96insFs

c.287_288ins7

1 paper

NM_000906.4

p.A96S

c.286G>T

1 paper

NM_000906.4

p.T95I

c.284C>T

1 paper

NM_000906.4

p.A141A

c.423C>A

1 paper

NM_000906.4

p.A141A

c.423C>T