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.T803insFs

c.2407_2408insTG

Surrounding Variants

1 paper

NM_001204.7

p.T803fs

c.2407_2408fs

1 paper

NM_001204.7

p.T803fs

c.2407_2408fs

1 paper

NM_001204.7

p.V804_T805delFs

c.2410_2413del4

2 papers

NM_001204.7

p.T803insFs

c.2408_2409insTG

1 paper

NM_001204.7

p.T803_V804insFs

c.2409_2410insTG

1 paper

NM_001204.7

p.V804fs

c.2410_2411fs

2 papers

NM_001204.7

p.T805insFs

c.2413dupA

2 papers

NM_001204.7

p.T805fs

c.2413_2414fs

1 paper

NM_001204.7

p.T805fs

c.2413_2414fs

1 paper

NM_001204.7

p.N807fs

c.2419_2420fs

1 paper

NM_001204.7

p.P799A

c.2395C>G

1 paper

NM_001204.7

p.N807delFs

c.2421delT