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.N861fs

c.2581_2582fs

Surrounding Variants

1 paper

NM_001204.7

p.N861fs

c.2581_2582fs

2 papers

NM_001204.7

p.I860fs

c.2578_2579fs

20 papers

NM_001204.7

p.I860delFs

c.2580delT

7 papers

NM_001204.7

p.S863N

c.2588G>A

2 papers

NM_001204.7

p.P864L

c.2591C>T

1 paper

NM_001204.7

p.D865_Q876del12

c.2593_2627del36

2 papers

NM_001204.7

p.T856fs

c.2566_2567fs

2 papers

NM_001204.7

p.T856delFs

c.2567delC

2 papers

NM_001204.7

p.E866D

c.2598G>C

2 papers

NM_001204.7

p.E866D

c.2598G>T

2 papers

NM_001204.7

p.E854*

c.2560G>T

1 paper

NM_001204.7

p.E868V

c.2603A>T