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

12 papers

NM_001204.7

p.W16*

c.48G>A

Surrounding Variants

1 paper

NM_001204.7

p.T17delFs

c.49delA

1 paper

NM_001204.7

p.T17fs

c.49_50fs

1 paper

NM_001204.7

p.T17A

c.49A>G

1 paper

NM_001204.7

p.T17S

c.49A>T

1 paper

NM_001204.7

p.T17fs

c.49_50fs

13 papers

NM_001204.7

p.W16*

c.47G>A

1 paper

NM_001204.7

p.T17S

c.50C>G

1 paper

NM_001204.7

p.W16fs

c.46_47fs

1 paper

NM_001204.7

p.P15P

c.45A>T

1 paper

NM_001204.7

p.T17T

c.51C>G

1 paper

NM_001204.7

p.I18fs

c.52_53fs

2 papers

NM_001204.7

p.P15insFs

c.44_45insG