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

1–12 of 1393 variants

94 papers

NM_001204.7

p.R899*

c.2695C>T

48 papers

NM_001204.7

p.R491W

c.1471C>T

44 papers

NM_001204.7

p.C118W

c.354T>G

40 papers

NM_001204.7

p.R332*

c.994C>T

38 papers

NM_001204.7

p.R491Q

c.1472G>A

33 papers

NM_001204.7

p.D485G

c.1454A>G

32 papers

NM_001204.7

p.R211*

c.631C>T

26 papers

NM_001204.7

p.S775N

c.2324G>A

26 papers

NM_001204.7

p.R873*

c.2617C>T

24 papers

NM_001204.7

p.R321*

c.961C>T

22 papers

NM_001204.7

p.V348I

c.1042G>A

21 papers

NM_001204.7

p.W9*

c.27G>A