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.Y96delFs

c.287_288delAT

Surrounding Variants

2 papers

NM_001204.7

p.Y96*

c.288T>A

1 paper

NM_001204.7

p.C94*

c.282T>A

2 papers

NM_001204.7

p.Y96*

c.288T>G

1 paper

NM_001204.7

p.Y96_E97insFs

c.288_289insC

1 paper

NM_001204.7

p.E97_E98delFs

c.289_292del4

5 papers

NM_001204.7

p.C94R

c.280T>C

5 papers

NM_001204.7

p.C94G

c.280T>G

4 papers

NM_001204.7

p.E98K

c.292G>A

3 papers

NM_001204.7

p.E98*

c.292G>T

1 paper

NM_001204.7

p.E93fs

c.277_278fs

3 papers

NM_001204.7

p.E93_C94insP

c.277_281ins3

1 paper

NM_001204.7

p.E93*

c.277G>T