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

4 papers

NM_001204.7

p.E489E

c.1467G>A

Surrounding Variants

1 paper

NM_001204.7

p.E489D

c.1467G>C

1 paper

NM_001204.7

p.A490insFs

c.1468_1469dupGC

1 paper

NM_001204.7

p.E489D

c.1467G>T

3 papers

NM_001204.7

p.A490D

c.1469C>A

5 papers

NM_001204.7

p.A490V

c.1469C>T

1 paper

NM_001204.7

p.A490_R491insFs

c.1470_1471insA

48 papers

NM_001204.7

p.R491W

c.1471C>T

1 paper

NM_001204.7

p.R491fs

c.1471_1472fs

38 papers

NM_001204.7

p.R491Q

c.1472G>A

1 paper

NM_001204.7

p.D487G

c.1460A>G

4 papers

NM_001204.7

p.D487V

c.1460A>T

1 paper

NM_001204.7

p.D487N

c.1459G>A