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

11 papers

NM_001204.7

p.C123R

c.367T>C

Surrounding Variants

8 papers

NM_001204.7

p.C123S

c.367T>A

8 papers

NM_001204.7

p.C123S

c.368G>C

1 paper

NM_001204.7

p.C123delFs

c.369delT

1 paper

NM_001204.7

p.C123*

c.369T>A

2 papers

NM_001204.7

p.L122S

c.365T>C

2 papers

NM_001204.7

p.N124insFs

c.371dupA

3 papers

NM_001204.7

p.N124D

c.370A>G

1 paper

NM_001204.7

p.N124fs

c.370_371fs

1 paper

NM_001204.7

p.N124S

c.371A>G

2 papers

NM_001204.7

p.V125D

c.374T>A

2 papers

NM_001204.7

p.T120delFs

c.360delA

1 paper

NM_001204.7

p.T120fs

c.358_359fs