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.E590_E602del13

c.1768_1805del39

Surrounding Variants

6 papers

NM_001204.7

p.Y589C

c.1766A>G

9 papers

NM_001204.7

p.R591*

c.1771C>T

2 papers

NM_001204.7

p.R591Q

c.1772G>A

1 paper

NM_001204.7

p.R584L

c.1751G>T

17 papers

NM_001204.7

p.R584*

c.1750C>T

2 papers

NM_001204.7

p.N583K

c.1749C>A

2 papers

NM_001204.7

p.N583K

c.1749C>G

4 papers

NM_001204.7

p.N583fs

c.1747_1748fs

5 papers

NM_001204.7

p.N583fs

c.1747_1748fs

6 papers

NM_001204.7

p.R597*

c.1789C>T

1 paper

NM_001204.7

p.K582*

c.1744A>T

1 paper

NM_001204.7

p.R597Q

c.1790G>A