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

1 paper

NM_001204.7

p.V654fs

c.1960_1961fs

Surrounding Variants

2 papers

NM_001204.7

p.V654_C655insFs

c.1962_1963insGA

2 papers

NM_001204.7

p.P653delFs

c.1958_1959delCT

1 paper

NM_001204.7

p.P653insFs

c.1957_1958insAC

2 papers

NM_001204.7

p.T652_P653insFs

c.1956_1957insAC

1 paper

NM_001204.7

p.L656insFs

c.1966_1967insG

1 paper

NM_001204.7

p.L656fs

c.1966_1967fs

2 papers

NM_001204.7

p.T652insFs

c.1954_1955dupAC

1 paper

NM_001204.7

p.L656S

c.1967T>C

2 papers

NM_001204.7

p.L656insFs

c.1968dupA

1 paper

NM_001204.7

p.Q657delFs

c.1969delC

2 papers

NM_001204.7

p.T652insFs

c.1954dupA

4 papers

NM_001204.7

p.Q657insFs

c.1969_1970insA