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.E224D

c.672G>C

Surrounding Variants

2 papers

NM_001204.7

p.E224D

c.672G>T

1 paper

NM_001204.7

p.R225C

c.673C>T

2 papers

NM_001204.7

p.R225fs

c.673_674fs

2 papers

NM_001204.7

p.R225H

c.674G>A

2 papers

NM_001204.7

p.R225_V227delFs

c.673_679del7

1 paper

NM_001204.7

p.P226S

c.676C>T

1 paper

NM_001204.7

p.L222F

c.666G>C

1 paper

NM_001204.7

p.L222F

c.666G>T

1 paper

NM_001204.7

p.L222Fs

c.664_665delinsAAGGFs

1 paper

NM_001204.7

p.L222fs

c.664_665fs

1 paper

NM_001204.7

p.L222insFs

c.665_666insT

2 papers

NM_001204.7

p.A228delFs

c.683delC