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.L312L

c.936G>C

Surrounding Variants

10 papers

NM_001204.7

p.A313P

c.937G>C

1 paper

NM_001204.7

p.Y314_L315delFs

c.941_945del5

2 papers

NM_001204.7

p.L312R

c.935T>G

1 paper

NM_001204.7

p.L312M

c.934C>A

2 papers

NM_001204.7

p.G311E

c.932G>A

1 paper

NM_001204.7

p.Y314fs

c.940_941fs

1 paper

NM_001204.7

p.R310G

c.928A>G

4 papers

NM_001204.7

p.R310*

c.928A>T

2 papers

NM_001204.7

p.L315P

c.944T>C

1 paper

NM_001204.7

p.R310insFs

c.928dupA

2 papers

NM_001204.7

p.H316Fs

c.946delinsATFs

1 paper

NM_001204.7

p.T309delFs

c.925_926delAC