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

2 papers

NM_001204.7

p.R303C

c.907C>T

Surrounding Variants

8 papers

NM_001204.7

p.R303H

c.908G>A

2 papers

NM_001204.7

p.L304F

c.910C>T

19 papers

NM_001204.7

p.S301P

c.901T>C

1 paper

NM_001204.7

p.H306fs

c.916_917fs

2 papers

NM_001204.7

p.H306P

c.917A>C

1 paper

NM_001204.7

p.H306_S307delFs

c.918_921del4

2 papers

NM_001204.7

p.V299fs

c.895_896fs

1 paper

NM_001204.7

p.S307ins1

c.919_920insAGC

7 papers

NM_001204.7

p.W298*

c.894G>A

7 papers

NM_001204.7

p.W298*

c.893G>A

3 papers

NM_001204.7

p.W298_V299insFs

c.894_895dupGG

2 papers

NM_001204.7

p.W298delFs

c.893delG