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.N371_A372insFs

c.1113_1114insG

Surrounding Variants

2 papers

NM_001204.7

p.N371_A372insFs

c.1113_1114insT

1 paper

NM_001204.7

p.N371delFs

c.1113delT

1 paper

NM_001204.7

p.A372fs

c.1114_1115fs

1 paper

NM_001204.7

p.A372fs

c.1114_1115fs

4 papers

NM_001204.7

p.A373P

c.1117G>C

2 papers

NM_001204.7

p.A373V

c.1118C>T

2 papers

NM_001204.7

p.E369E

c.1107A>G

2 papers

NM_001204.7

p.I374delFs

c.1120delA

1 paper

NM_001204.7

p.I374fs

c.1120_1121fs

1 paper

NM_001204.7

p.E369K

c.1105G>A

1 paper

NM_001204.7

p.E369*

c.1105G>T

2 papers

NM_001204.7

p.I374insFs

c.1122dupA