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

2 papers

NM_001204.7

p.Q721R

c.2162A>G

Surrounding Variants

2 papers

NM_001204.7

p.Q721*

c.2161C>T

3 papers

NM_001204.7

p.Q720*

c.2158C>T

1 paper

NM_001204.7

p.A714S

c.2140G>T

2 papers

NM_001204.7

p.G729A

c.2186G>C

2 papers

NM_001204.7

p.L713_A714del2

c.2137_2141del6

1 paper

NM_001204.7

p.L710V

c.2128C>G

1 paper

NM_001204.7

p.L710F

c.2128C>T

2 papers

NM_001204.7

p.L710fs

c.2128_2129fs

4 papers

NM_001204.7

p.L710delFs

c.2128delC

4 papers

NM_001204.7

p.Y708*

c.2124C>A

4 papers

NM_001204.7

p.Y708*

c.2124C>G

1 paper

NM_001204.7

p.D736G

c.2207A>G