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.S526T

c.1577G>C

Surrounding Variants

1 paper

NM_000906.4

p.S526G

c.1576A>G

1 paper

NM_000906.4

p.L524M

c.1570C>A

1 paper

NM_000906.4

p.S519_H523delFs

c.1555_1568del14

1 paper

NM_000906.4

p.S518_R522delFs

c.1552_1565del14

1 paper

NM_000906.4

p.G535R

c.1603G>A

1 paper

NM_000906.4

p.G535R

c.1603G>C

1 paper

NM_000906.4

p.E513D

c.1539G>C

1 paper

NM_000906.4

p.E513D

c.1539G>T

1 paper

NM_000906.4

p.R511H

c.1532G>A

1 paper

NM_000906.4

p.V510_W512del0

c.1529_1534del6

1 paper

NM_000906.4

p.R509Q

c.1526G>A

1 paper

NM_000906.4

p.V510_W512del3

c.1528_1535del9