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.P15fs

c.43_44fs

Surrounding Variants

1 paper

NM_001204.7

p.P15insFs

c.43_44insG

3 papers

NM_001204.7

p.P15fs

c.43_44fs

5 papers

NM_001204.7

p.P15delFs

c.44delC

1 paper

NM_001204.7

p.P15_L19del5

c.43_56del15

2 papers

NM_001204.7

p.P15insFs

c.44_45insG

1 paper

NM_001204.7

p.P15delFs

c.45delA

1 paper

NM_001204.7

p.P15P

c.45A>T

1 paper

NM_001204.7

p.W16fs

c.46_47fs

13 papers

NM_001204.7

p.W16*

c.47G>A

9 papers

NM_001204.7

p.W13*

c.39G>A

12 papers

NM_001204.7

p.W16*

c.48G>A

9 papers

NM_001204.7

p.W13*

c.38G>A