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.Y113fs

c.337_338fs

Surrounding Variants

4 papers

NM_001204.7

p.Y113insFs

c.338dupA

4 papers

NM_001204.7

p.Y113C

c.338A>G

1 paper

NM_001204.7

p.Y113delFs

c.339delC

10 papers

NM_001204.7

p.Y113*

c.339C>A

1 paper

NM_001204.7

p.Y113_R114insFs

c.339_340insA

2 papers

NM_001204.7

p.Y113_R114insFs

c.339_340insAA

9 papers

NM_001204.7

p.Y113*

c.339C>G

1 paper

NM_001204.7

p.T112I

c.335C>T

1 paper

NM_001204.7

p.T112S

c.334A>T

1 paper

NM_001204.7

p.R114insFs

c.340_341insAA

2 papers

NM_001204.7

p.R114fs

c.340_341fs

1 paper

NM_001204.7

p.R114P

c.341G>C