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

2 papers

NM_000906.4

p.Y152H

c.454T>C

Surrounding Variants

1 paper

NM_000906.4

p.E151G

c.452A>G

1 paper

NM_000906.4

p.D150E

c.450C>A

1 paper

NM_000906.4

p.D150E

c.450C>G

1 paper

NM_000906.4

p.G147S

c.439G>A

1 paper

NM_000906.4

p.A141A

c.423C>A

1 paper

NM_000906.4

p.A141A

c.423C>T

1 paper

NM_000906.4

p.P135R

c.404C>G

1 paper

NM_000906.4

p.A170_A171del1

c.510_512delGGC

1 paper

NM_000906.4

p.V134I

c.400G>A

1 paper

NM_000906.4

p.R133W

c.397C>T

1 paper

NM_000906.4

p.H173R

c.518A>G

1 paper

NM_000906.4

p.Q181*

c.541C>T