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.F115C

c.344T>G

Surrounding Variants

2 papers

NM_001204.7

p.F115S

c.344T>C

2 papers

NM_001204.7

p.F115fs

c.343_344fs

2 papers

NM_001204.7

p.F115_C116delFs

c.345_346delCT

1 paper

NM_001204.7

p.C116S

c.346T>A

4 papers

NM_001204.7

p.C116R

c.346T>C

1 paper

NM_001204.7

p.R114P

c.341G>C

1 paper

NM_001204.7

p.C116S

c.347G>C

2 papers

NM_001204.7

p.F115insFs

c.344dupT

1 paper

NM_001204.7

p.C116F

c.347G>T

1 paper

NM_001204.7

p.R114insFs

c.340_341insAA

2 papers

NM_001204.7

p.C116W

c.348C>G

2 papers

NM_001204.7

p.R114fs

c.340_341fs