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.L685F

c.2053C>T

Surrounding Variants

2 papers

NM_001204.7

p.M686L

c.2056A>C

1 paper

NM_001204.7

p.M686L

c.2056A>T

3 papers

NM_001204.7

p.S689_L690del2

c.2065_2069del6

1 paper

NM_001204.7

p.K691_L699del9

c.2071_2096del27

2 papers

NM_001204.7

p.K691*

c.2071A>T

2 papers

NM_001204.7

p.K678K

c.2034G>A

1 paper

NM_001204.7

p.Q692R

c.2075A>G

2 papers

NM_001204.7

p.N676_L677insFs

c.2027_2030dup4

1 paper

NM_001204.7

p.G695V

c.2084G>T

1 paper

NM_001204.7

p.G695_P696delFs

c.2085_2088del4

1 paper

NM_001204.7

p.P696fs

c.2086_2087fs

1 paper

NM_001204.7

p.D697N

c.2089G>A