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.H87fs

c.259_260fs

Surrounding Variants

2 papers

NM_001204.7

p.H87insFs

c.260dupA

3 papers

NM_001204.7

p.H87Y

c.259C>T

1 paper

NM_001204.7

p.H87_I88delFs

c.261_262delCA

2 papers

NM_001204.7

p.H87_I88insFs

c.261_262insA

1 paper

NM_001204.7

p.S86A

c.256T>G

8 papers

NM_001204.7

p.W85*

c.255G>A

1 paper

NM_001204.7

p.W85C

c.255G>C

1 paper

NM_001204.7

p.W85C

c.255G>T

7 papers

NM_001204.7

p.W85*

c.254G>A

1 paper

NM_001204.7

p.G89E

c.266G>A

5 papers

NM_001204.7

p.G89A

c.266G>C

3 papers

NM_001204.7

p.C84Y

c.251G>A