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.L668V

c.2002C>G

Surrounding Variants

2 papers

NM_001204.7

p.L668delFs

c.2004delA

1 paper

NM_001204.7

p.P670insFs

c.2009dupC

3 papers

NM_001204.7

p.P670delFs

c.2009delC

2 papers

NM_001204.7

p.P670fs

c.2008_2009fs

1 paper

NM_001204.7

p.E672insFs

c.2014_2015insA

3 papers

NM_001204.7

p.E672*

c.2014G>T

1 paper

NM_001204.7

p.E672fs

c.2014_2015fs

1 paper

NM_001204.7

p.E672D

c.2016A>C

1 paper

NM_001204.7

p.E672D

c.2016A>T

2 papers

NM_001204.7

p.E661Q

c.1981G>C

4 papers

NM_001204.7

p.E661*

c.1981G>T

2 papers

NM_001204.7

p.N676_L677insFs

c.2027_2030dup4