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

15 papers

NM_001204.7

p.R899P

c.2696G>C

Surrounding Variants

1 paper

NM_001204.7

p.R899Q

c.2696G>A

94 papers

NM_001204.7

p.R899*

c.2695C>T

11 papers

NM_001204.7

p.N903S

c.2708A>G

3 papers

NM_001204.7

p.R893Q

c.2678G>A

1 paper

NM_001204.7

p.R893W

c.2677C>T

1 paper

NM_001204.7

p.E892fs

c.2674_2675fs

2 papers

NM_001204.7

p.E892delFs

c.2674delG

1 paper

NM_001204.7

p.R890fs

c.2668_2669fs

1 paper

NM_001204.7

p.R890delFs

c.2668delA

2 papers

NM_001204.7

p.C910Y

c.2729G>A

2 papers

NM_001204.7

p.C910*

c.2730T>A

1 paper

NM_001204.7

p.R886H

c.2657G>A