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

3 papers

NM_000906.4

p.L1034F

c.3100C>T

Surrounding Variants

1 paper

NM_000906.4

p.R1035*

c.3103C>T

2 papers

NM_000906.4

p.M1040K

c.3119T>A

2 papers

NM_000906.4

p.R1047W

c.3139C>T

1 paper

NM_000906.4

p.L1052F

c.3154C>T

1 paper

NM_000906.4

p.R1060*

c.3178C>T

1 paper

NM_000906.4

p.E1006A

c.3017A>C

6 papers

NM_000906.4

p.E967K

c.2899G>A

1 paper

NM_000906.4

p.R964Q

c.2891G>A

1 paper

NM_000906.4

p.R957C

c.2869C>T

1 paper

NM_000906.4

p.A949V

c.2846C>T

5 papers

NM_000906.4

p.R939Q

c.2816G>A

1 paper

NM_000906.4

p.G932R

c.2794G>A