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.Y551fs

c.1651_1652fs

Surrounding Variants

1 paper

NM_001204.7

p.I552V

c.1654A>G

1 paper

NM_001204.7

p.S549fs

c.1645_1646fs

1 paper

NM_001204.7

p.S548delFs

c.1644delC

1 paper

NM_001204.7

p.D554E

c.1662C>A

1 paper

NM_001204.7

p.D554E

c.1662C>G

1 paper

NM_001204.7

p.S547P

c.1639T>C

1 paper

NM_001204.7

p.D545N

c.1633G>A

4 papers

NM_001204.7

p.Y543*

c.1629T>A

4 papers

NM_001204.7

p.Y543*

c.1629T>G

1 paper

NM_001204.7

p.I540fs

c.1618_1619fs

8 papers

NM_001204.7

p.V563M

c.1687G>A

1 paper

NM_001204.7

p.V563L

c.1687G>C