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.Q783insFs

c.2347_2348insTC

Surrounding Variants

1 paper

NM_001204.7

p.Q783fs

c.2347_2348fs

2 papers

NM_001204.7

p.K782_Q783del2

c.2344_2348del6

1 paper

NM_001204.7

p.L781*

c.2342T>A

3 papers

NM_001204.7

p.V784V

c.2352C>T

1 paper

NM_001204.7

p.N780S

c.2339A>G

1 paper

NM_001204.7

p.T786S

c.2357C>G

1 paper

NM_001204.7

p.G787*

c.2359G>T

1 paper

NM_001204.7

p.V788I

c.2362G>A

1 paper

NM_001204.7

p.H777Y

c.2329C>T

1 paper

NM_001204.7

p.K776E

c.2326A>G

26 papers

NM_001204.7

p.S775N

c.2324G>A

2 papers

NM_001204.7

p.M791delFs

c.2372_2373delTG