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.Q749insFs

c.2245dupC

Surrounding Variants

2 papers

NM_001204.7

p.Q748H

c.2244G>C

2 papers

NM_001204.7

p.Q748H

c.2244G>T

1 paper

NM_001204.7

p.L745F

c.2233C>T

1 paper

NM_001204.7

p.Y743*

c.2229T>A

1 paper

NM_001204.7

p.Y743*

c.2229T>G

3 papers

NM_001204.7

p.Y743C

c.2228A>G

2 papers

NM_001204.7

p.T756fs

c.2266_2267fs

2 papers

NM_001204.7

p.T756_S757insFs

c.2268_2269insA

1 paper

NM_001204.7

p.V737I

c.2209G>A

1 paper

NM_001204.7

p.D736G

c.2207A>G

1 paper

NM_001204.7

p.T762delFs

c.2286delC

3 papers

NM_001204.7

p.N764insFs

c.2291dupA