Varaico: Literature-Extracted Genetic Variants

BMPR2

618 papers

RefSeq Summary

This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are members of the TGF-beta superfamily. BMPs...

Pfam Domains

Activin_recpaa 32–130UCSCActivin types I and II receptor domain

Pkinaseaa 203–501UCSCProtein kinase domain

Gene Aliases

HGNC Name

bone morphogenetic protein receptor type 2

HGNC Previous Symbol

PPH1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001204.7

p.K219delFs

c.657delA

Surrounding Variants

3 papers

NM_001204.7

p.Y218*

c.654T>A

3 papers

NM_001204.7

p.Y218*

c.654T>G

1 paper

NM_001204.7

p.Y218delins

c.653_654delinsCC

1 paper

NM_001204.7

p.Y218H

c.652T>C

3 papers

NM_001204.7

p.G220insFs

c.659dupG

1 paper

NM_001204.7

p.V217_Y218insFs

c.651_652ins23

1 paper

NM_001204.7

p.G220fs

c.658_659fs

1 paper

NM_001204.7

p.V217fs

c.649_650fs

1 paper

NM_001204.7

p.V217fs

c.649_650fs

2 papers

NM_001204.7

p.G220_S221insFs

c.660_661insG

1 paper

NM_001204.7

p.S221fs

c.661_662fs

1 paper

NM_001204.7

p.A216P

c.646G>C