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.D90H

c.268G>C

Surrounding Variants

1 paper

NM_001204.7

p.D90A

c.269A>C

1 paper

NM_001204.7

p.G89E

c.266G>A

5 papers

NM_001204.7

p.G89A

c.266G>C

2 papers

NM_001204.7

p.Q92delFs

c.274delC

6 papers

NM_001204.7

p.Q92*

c.274C>T

5 papers

NM_001204.7

p.Q92L

c.275A>T

2 papers

NM_001204.7

p.H87_I88insFs

c.261_262insA

2 papers

NM_001204.7

p.E93insFs

c.277_278insG

12 papers

NM_001204.7

p.Q92H

c.276A>C

10 papers

NM_001204.7

p.Q92H

c.276A>T

2 papers

NM_001204.7

p.H87insFs

c.260dupA

3 papers

NM_001204.7

p.H87Y

c.259C>T