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

32 papers

NM_001204.7

p.R211*

c.631C>T

Surrounding Variants

4 papers

NM_001204.7

p.R211R

c.633A>G

1 paper

NM_001204.7

p.G210A

c.629G>C

1 paper

NM_001204.7

p.G212D

c.635G>A

1 paper

NM_001204.7

p.I209T

c.626T>C

1 paper

NM_001204.7

p.I209insFs

c.625_626insTG

4 papers

NM_001204.7

p.R213R

c.637C>A

15 papers

NM_001204.7

p.R213*

c.637C>T

1 paper

NM_001204.7

p.R213L

c.638G>T

1 paper

NM_001204.7

p.L208delFs

c.623delT

1 paper

NM_001204.7

p.E207_L208Splc

c.622-1G>A

2 papers

NM_001204.7

p.E207_L208Splc

c.622-1G>T

1 paper

NM_001204.7

p.E207_L208Splc

c.622-2A>C