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.E481del1

c.1441_1442delGAA

Surrounding Variants

1 paper

NM_001204.7

p.E481K

c.1441G>A

2 papers

NM_001204.7

p.E481*

c.1441G>T

1 paper

NM_001204.7

p.I480V

c.1438A>G

18 papers

NM_001204.7

p.C483R

c.1447T>C

2 papers

NM_001204.7

p.C483fs

c.1447_1448fs

2 papers

NM_001204.7

p.E478*

c.1432G>T

1 paper

NM_001204.7

p.K477R

c.1430A>G

2 papers

NM_001204.7

p.W484insFs

c.1450_1451insG

2 papers

NM_001204.7

p.K477E

c.1429A>G

1 paper

NM_001204.7

p.K477*

c.1429A>T

6 papers

NM_001204.7

p.W484*

c.1451G>A

1 paper

NM_001204.7

p.K477_E478del2

c.1429_1433del6