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.W298delFs

c.893delG

Surrounding Variants

3 papers

NM_001204.7

p.W298_V299insFs

c.894_895dupGG

7 papers

NM_001204.7

p.W298*

c.893G>A

1 paper

NM_001204.7

p.D297G

c.890A>G

7 papers

NM_001204.7

p.W298*

c.894G>A

2 papers

NM_001204.7

p.V299fs

c.895_896fs

1 paper

NM_001204.7

p.S296delFs

c.888delT

1 paper

NM_001204.7

p.T295A

c.883A>G

19 papers

NM_001204.7

p.S301P

c.901T>C

1 paper

NM_001204.7

p.H294delFs

c.881delA

1 paper

NM_001204.7

p.L293L

c.879C>T

1 paper

NM_001204.7

p.L293_H294Fs

c.878_880delinsCTFs

2 papers

NM_001204.7

p.L293F

c.877C>T