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.C84G

c.250T>G

Surrounding Variants

4 papers

NM_001204.7

p.C84R

c.250T>C

1 paper

NM_001204.7

p.C84fs

c.250_251fs

3 papers

NM_001204.7

p.C84Y

c.251G>A

7 papers

NM_001204.7

p.C84F

c.251G>T

2 papers

NM_001204.7

p.G83E

c.248G>A

2 papers

NM_001204.7

p.G83fs

c.247_248fs

4 papers

NM_001204.7

p.G83Splc

c.248-1G>A

2 papers

NM_001204.7

p.G83Splc

c.248-2A>G

7 papers

NM_001204.7

p.W85*

c.254G>A

8 papers

NM_001204.7

p.W85*

c.255G>A

1 paper

NM_001204.7

p.W85C

c.255G>C

1 paper

NM_001204.7

p.W85C

c.255G>T