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.P320_R321ins1

c.960_961insCGA

Surrounding Variants

4 papers

NM_001204.7

p.R321delFs

c.961delC

1 paper

NM_001204.7

p.P320fs

c.958_959fs

24 papers

NM_001204.7

p.R321*

c.961C>T

2 papers

NM_001204.7

p.R321fs

c.961_962fs

1 paper

NM_001204.7

p.R321Q

c.962G>A

3 papers

NM_001204.7

p.E318D

c.954A>C

3 papers

NM_001204.7

p.E318D

c.954A>T

1 paper

NM_001204.7

p.D323delFs

c.967delG

2 papers

NM_001204.7

p.D323N

c.967G>A

2 papers

NM_001204.7

p.D323H

c.967G>C

1 paper

NM_001204.7

p.D323Splc

c.967+1G>T

2 papers

NM_001204.7

p.D323Splc

c.967+2T>C