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

4 papers

NM_001204.7

p.R770fs

c.2308_2309fs

Surrounding Variants

1 paper

NM_001204.7

p.P769H

c.2306C>A

7 papers

NM_001204.7

p.R770delFs

c.2308delC

2 papers

NM_001204.7

p.E768fs

c.2302_2303fs

2 papers

NM_001204.7

p.E768_R770delFs

c.2303_2309del7

1 paper

NM_001204.7

p.G774delFs

c.2321delG

8 papers

NM_001204.7

p.T766A

c.2296A>G

2 papers

NM_001204.7

p.T766delFs

c.2297delC

1 paper

NM_001204.7

p.T766fs

c.2296_2297fs

1 paper

NM_001204.7

p.G774fs

c.2320_2321fs

26 papers

NM_001204.7

p.S775N

c.2324G>A

4 papers

NM_001204.7

p.N764_S765insFs

c.2292_2293insA

1 paper

NM_001204.7

p.N764fs

c.2290_2291fs