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

4 papers

NM_001204.7

p.D323Splc

c.968-5A>G

Surrounding Variants

4 papers

NM_001204.7

p.D323Splc

c.968-3C>G

1 paper

NM_001204.7

p.D323Splc

c.968-2A>C

1 paper

NM_001204.7

p.D323insFs

c.968_969insA

4 papers

NM_001204.7

p.D323Splc

c.968-1G>T

2 papers

NM_001204.7

p.D323insFs

c.968_969insT

2 papers

NM_001204.7

p.D323fs

c.967_968fs

3 papers

NM_001204.7

p.D323D

c.969T>C

1 paper

NM_001204.7

p.H324fs

c.970_971fs

1 paper

NM_001204.7

p.H324fs

c.970_971fs

2 papers

NM_001204.7

p.D323Splc

c.968-12T>G

1 paper

NM_001204.7

p.H324Q

c.972T>A

1 paper

NM_001204.7

p.H324Q

c.972T>G