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.P133_P134insFs

c.399_400insA

Surrounding Variants

4 papers

NM_001204.7

p.P133L

c.398C>T

2 papers

NM_001204.7

p.P134fs

c.400_401fs

6 papers

NM_001204.7

p.P133delFs

c.399delT

2 papers

NM_001204.7

p.P133fs

c.397_398fs

1 paper

NM_001204.7

p.P133A

c.397C>G

2 papers

NM_001204.7

p.P133S

c.397C>T

1 paper

NM_001204.7

p.P134L

c.401C>T

2 papers

NM_001204.7

p.T136delFs

c.407_408delCA

2 papers

NM_001204.7

p.T136_P138delFs

c.408_412del5

1 paper

NM_001204.7

p.P132A

c.394C>G

1 paper

NM_001204.7

p.D135E

c.405C>A

1 paper

NM_001204.7

p.T136fs

c.406_407fs