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.H819_A820insT

c.2455_2459ins3

Surrounding Variants

2 papers

NM_001204.7

p.V816insFs

c.2446_2447dupGT

2 papers

NM_001204.7

p.Q824*

c.2470C>T

1 paper

NM_001204.7

p.H814fs

c.2440_2441fs

1 paper

NM_001204.7

p.H814delFs

c.2441_2442delAC

2 papers

NM_001204.7

p.Y825C

c.2474A>G

2 papers

NM_001204.7

p.G828delFs

c.2484delG

1 paper

NM_001204.7

p.G828R

c.2482G>A

1 paper

NM_001204.7

p.G828R

c.2482G>C

2 papers

NM_001204.7

p.T829fs

c.2485_2486fs

2 papers

NM_001204.7

p.V809insFs

c.2426dupT

1 paper

NM_001204.7

p.G808delFs

c.2423_2424delGT

1 paper

NM_001204.7

p.V830G

c.2489T>G