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.Q92delFs

c.274delC

Surrounding Variants

1 paper

NM_001204.7

p.D90A

c.269A>C

1 paper

NM_001204.7

p.D90H

c.268G>C

6 papers

NM_001204.7

p.Q92*

c.274C>T

1 paper

NM_001204.7

p.G89E

c.266G>A

5 papers

NM_001204.7

p.G89A

c.266G>C

5 papers

NM_001204.7

p.Q92L

c.275A>T

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

1 paper

NM_001204.7

p.E93fs

c.277_278fs

3 papers

NM_001204.7

p.E93_C94insP

c.277_281ins3

1 paper

NM_001204.7

p.E93*

c.277G>T