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.E581K

c.1741G>A

Surrounding Variants

4 papers

NM_001204.7

p.E581fs

c.1741_1742fs

10 papers

NM_001204.7

p.E581delFs

c.1742delA

1 paper

NM_001204.7

p.E581G

c.1742A>G

1 paper

NM_001204.7

p.E581insFs

c.1741_1742ins4

1 paper

NM_001204.7

p.K582*

c.1744A>T

4 papers

NM_001204.7

p.N583fs

c.1747_1748fs

5 papers

NM_001204.7

p.N583fs

c.1747_1748fs

2 papers

NM_001204.7

p.N583K

c.1749C>A

2 papers

NM_001204.7

p.N583K

c.1749C>G

1 paper

NM_001204.7

p.T578A

c.1732A>G

17 papers

NM_001204.7

p.R584*

c.1750C>T

1 paper

NM_001204.7

p.R584L

c.1751G>T