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.L293F

c.877C>T

Surrounding Variants

1 paper

NM_001204.7

p.L293fs

c.877_878fs

1 paper

NM_001204.7

p.L293_H294Fs

c.878_880delinsCTFs

1 paper

NM_001204.7

p.L293L

c.879C>T

1 paper

NM_001204.7

p.H294delFs

c.881delA

3 papers

NM_001204.7

p.L291*

c.872T>A

3 papers

NM_001204.7

p.L291*

c.872T>G

2 papers

NM_001204.7

p.L293_S296del0

c.877_888del12

1 paper

NM_001204.7

p.T295A

c.883A>G

1 paper

NM_001204.7

p.L291fs

c.871_872fs

1 paper

NM_001204.7

p.L291fs

c.871_872fs

1 paper

NM_001204.7

p.Y290insFs

c.869_870insT

2 papers

NM_001204.7

p.L291delFs

c.872delT