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

3 papers

NM_001204.7

p.Q109H

c.327G>C

Surrounding Variants

2 papers

NM_001204.7

p.Q109Q

c.327G>A

1 paper

NM_001204.7

p.Q109H

c.327G>T

2 papers

NM_001204.7

p.G111R

c.331G>A

2 papers

NM_001204.7

p.G111R

c.331G>C

1 paper

NM_001204.7

p.T112S

c.334A>T

4 papers

NM_001204.7

p.S107*

c.320C>A

4 papers

NM_001204.7

p.S107*

c.320C>G

1 paper

NM_001204.7

p.T112I

c.335C>T

10 papers

NM_001204.7

p.S107P

c.319T>C

1 paper

NM_001204.7

p.P106L

c.317C>T

4 papers

NM_001204.7

p.Y113insFs

c.338dupA

1 paper

NM_001204.7

p.Y113fs

c.337_338fs