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.N837S

c.2510A>G

Surrounding Variants

2 papers

NM_001204.7

p.T835insFs

c.2504_2505insA

3 papers

NM_001204.7

p.T835fs

c.2503_2504fs

5 papers

NM_001204.7

p.T835delFs

c.2504delC

2 papers

NM_001204.7

p.T835fs

c.2503_2504fs

3 papers

NM_001204.7

p.H841insFs

c.2521_2522dupCA

1 paper

NM_001204.7

p.T836_H841delFs

c.2506_2522del17

1 paper

NM_001204.7

p.T835insFs

c.2503dupA

4 papers

NM_001204.7

p.Q834*

c.2500C>T

2 papers

NM_001204.7

p.H841fs

c.2521_2522fs

2 papers

NM_001204.7

p.H841delFs

c.2522delA

4 papers

NM_001204.7

p.T835_T836delFs

c.2503_2506del4

3 papers

NM_001204.7

p.A843delFs

c.2527delG