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.E376del1

c.1126_1127delGAG

Surrounding Variants

2 papers

NM_001204.7

p.E376*

c.1126G>T

1 paper

NM_001204.7

p.E376G

c.1127A>G

1 paper

NM_001204.7

p.S375fs

c.1123_1124fs

3 papers

NM_001204.7

p.E376_V377Splc

c.1128+1G>A

6 papers

NM_001204.7

p.E376_V377Splc

c.1128+1G>T

2 papers

NM_001204.7

p.I374insFs

c.1122dupA

1 paper

NM_001204.7

p.I374fs

c.1120_1121fs

2 papers

NM_001204.7

p.E376_V377Splc

c.1128+2T>G

2 papers

NM_001204.7

p.I374delFs

c.1120delA

2 papers

NM_001204.7

p.A373V

c.1118C>T

4 papers

NM_001204.7

p.A373P

c.1117G>C

1 paper

NM_001204.7

p.A372fs

c.1114_1115fs