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.S286insFs

c.857dupC

Surrounding Variants

1 paper

NM_001204.7

p.S286fs

c.856_857fs

2 papers

NM_001204.7

p.G285delFs

c.855delA

2 papers

NM_001204.7

p.G285fs

c.853_854fs

1 paper

NM_001204.7

p.L287fs

c.859_860fs

3 papers

NM_001204.7

p.N284_G285Splc

c.853-1G>A

4 papers

NM_001204.7

p.N284_G285Splc

c.853-1G>C

6 papers

NM_001204.7

p.L287*

c.860T>A

5 papers

NM_001204.7

p.L287*

c.860T>G

2 papers

NM_001204.7

p.N284_G285Splc

c.853-2A>C

10 papers

NM_001204.7

p.N284_G285Splc

c.853-2A>G

1 paper

NM_001204.7

p.C288_K289insC

c.862_866ins3

1 paper

NM_001204.7

p.K289_S292del4

c.865_875del12