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

4 papers

NM_001204.7

p.S532*

c.1595C>A

Surrounding Variants

4 papers

NM_001204.7

p.S532*

c.1595C>G

1 paper

NM_001204.7

p.S532fs

c.1594_1595fs

5 papers

NM_001204.7

p.H533R

c.1598A>G

1 paper

NM_001204.7

p.R535fs

c.1603_1604fs

1 paper

NM_001204.7

p.R535delFs

c.1604delG

2 papers

NM_001204.7

p.R536C

c.1606C>T

1 paper

NM_001204.7

p.P538fs

c.1612_1613fs

2 papers

NM_001204.7

p.P538delFs

c.1614delA

1 paper

NM_001204.7

p.I540fs

c.1618_1619fs

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.D545N

c.1633G>A