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.P762H

c.2285C>A

Surrounding Variants

1 paper

NM_000906.4

p.A768V

c.2303C>T

1 paper

NM_000906.4

p.R754Q

c.2261G>A

1 paper

NM_000906.4

p.Q770H

c.2310G>C

1 paper

NM_000906.4

p.Q770H

c.2310G>T

1 paper

NM_000906.4

p.I751I

c.2253C>T

1 paper

NM_000906.4

p.R782W

c.2344C>T

1 paper

NM_000906.4

p.R782Q

c.2345G>A

1 paper

NM_000906.4

p.R791_L799del9

c.2371_2396del27

1 paper

NM_000906.4

p.R791K

c.2372G>A

1 paper

NM_000906.4

p.P793L

c.2378C>T

1 paper

NM_000906.4

p.F794L

c.2380T>C

1 paper

NM_000906.4

p.F794L

c.2382C>A