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.C910*

c.2730T>A

Surrounding Variants

2 papers

NM_001204.7

p.C910Y

c.2729G>A

2 papers

NM_001204.7

p.Q913*

c.2737C>T

1 paper

NM_001204.7

p.D914H

c.2740G>C

1 paper

NM_001204.7

p.D914E

c.2742T>A

1 paper

NM_001204.7

p.D914E

c.2742T>G

1 paper

NM_001204.7

p.L916L

c.2748T>C

1 paper

NM_001204.7

p.Q918_P921del4

c.2752_2762del12

11 papers

NM_001204.7

p.N903S

c.2708A>G

4 papers

NM_001204.7

p.Q918*

c.2752C>T

1 paper

NM_001204.7

p.Q918_G919insFs

c.2754_2755insA

1 paper

NM_001204.7

p.R899Q

c.2696G>A

15 papers

NM_001204.7

p.R899P

c.2696G>C