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.C118S

c.353G>C

Surrounding Variants

8 papers

NM_001204.7

p.C118Y

c.353G>A

2 papers

NM_001204.7

p.C118S

c.352T>A

2 papers

NM_001204.7

p.C118*

c.354T>A

44 papers

NM_001204.7

p.C118W

c.354T>G

1 paper

NM_001204.7

p.C118_S119delins

c.354_355delinsAG

5 papers

NM_001204.7

p.S119delFs

c.355delA

2 papers

NM_001204.7

p.C118delFs

c.353delG

3 papers

NM_001204.7

p.C118fs

c.352_353fs

1 paper

NM_001204.7

p.S119fs

c.355_356fs

16 papers

NM_001204.7

p.C117Y

c.350G>A

7 papers

NM_001204.7

p.C117S

c.350G>C

1 paper

NM_001204.7

p.T120delFs

c.359_360delCA