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

5 papers

NM_001204.7

p.C117R

c.349T>C

Surrounding Variants

6 papers

NM_001204.7

p.C117S

c.349T>A

2 papers

NM_001204.7

p.C117G

c.349T>G

1 paper

NM_001204.7

p.C117insFs

c.350dupG

1 paper

NM_001204.7

p.C117fs

c.349_350fs

2 papers

NM_001204.7

p.C116W

c.348C>G

16 papers

NM_001204.7

p.C117Y

c.350G>A

7 papers

NM_001204.7

p.C117S

c.350G>C

1 paper

NM_001204.7

p.C116S

c.347G>C

1 paper

NM_001204.7

p.C116F

c.347G>T

2 papers

NM_001204.7

p.C118S

c.352T>A

1 paper

NM_001204.7

p.C116S

c.346T>A

4 papers

NM_001204.7

p.C116R

c.346T>C