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.L608delFs

c.1822delC

Surrounding Variants

1 paper

NM_001204.7

p.S607G

c.1819A>G

1 paper

NM_001204.7

p.L608fs

c.1822_1823fs

1 paper

NM_001204.7

p.T606P

c.1816A>C

1 paper

NM_001204.7

p.R597Q

c.1790G>A

6 papers

NM_001204.7

p.R597*

c.1789C>T

1 paper

NM_001204.7

p.T621K

c.1862C>A

2 papers

NM_001204.7

p.P622Q

c.1865C>A

1 paper

NM_001204.7

p.S623R

c.1867A>C

2 papers

NM_001204.7

p.R591Q

c.1772G>A

9 papers

NM_001204.7

p.R591*

c.1771C>T

1 paper

NM_001204.7

p.S623R

c.1869T>A

1 paper

NM_001204.7

p.S623R

c.1869T>G