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.S568S

c.1704T>A

Surrounding Variants

2 papers

NM_001204.7

p.I566I

c.1698T>A

2 papers

NM_001204.7

p.N565S

c.1694A>G

1 paper

NM_001204.7

p.N565Y

c.1693A>T

1 paper

NM_001204.7

p.S573_P576del4

c.1717_1727del12

8 papers

NM_001204.7

p.V563M

c.1687G>A

1 paper

NM_001204.7

p.V563L

c.1687G>C

1 paper

NM_001204.7

p.V563L

c.1687G>T

2 papers

NM_001204.7

p.L577*

c.1730T>A

1 paper

NM_001204.7

p.T578A

c.1732A>G

1 paper

NM_001204.7

p.E581insFs

c.1741_1742ins4

1 paper

NM_001204.7

p.E581K

c.1741G>A

4 papers

NM_001204.7

p.E581fs

c.1741_1742fs