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.G56R

c.166G>C

Surrounding Variants

1 paper

NM_000906.4

p.G56R

c.166G>A

1 paper

NM_000906.4

p.R54S

c.160C>A

1 paper

NM_000906.4

p.V59delFs

c.175delG

1 paper

NM_000906.4

p.V59G

c.176T>G

1 paper

NM_000906.4

p.S47W

c.140C>G

1 paper

NM_000906.4

p.L35L

c.105G>C

2 papers

NM_000906.4

p.A32T

c.94G>A

1 paper

NM_000906.4

p.S30R

c.90C>A

1 paper

NM_000906.4

p.S30R

c.90C>G

1 paper

NM_000906.4

p.S30R

c.88A>C

1 paper

NM_000906.4

p.R28R

c.82C>A

1 paper

NM_000906.4

p.E86D

c.258A>T