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

26 papers

NM_001204.7

p.S775N

c.2324G>A

Surrounding Variants

1 paper

NM_001204.7

p.K776E

c.2326A>G

1 paper

NM_001204.7

p.G774fs

c.2320_2321fs

1 paper

NM_001204.7

p.H777Y

c.2329C>T

1 paper

NM_001204.7

p.G774delFs

c.2321delG

1 paper

NM_001204.7

p.N780S

c.2339A>G

4 papers

NM_001204.7

p.R770fs

c.2308_2309fs

1 paper

NM_001204.7

p.P769H

c.2306C>A

1 paper

NM_001204.7

p.L781*

c.2342T>A

2 papers

NM_001204.7

p.K782_Q783del2

c.2344_2348del6

7 papers

NM_001204.7

p.R770delFs

c.2308delC

1 paper

NM_001204.7

p.Q783insFs

c.2347_2348insTC

2 papers

NM_001204.7

p.E768fs

c.2302_2303fs