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.M791delFs

c.2372_2373delTG

Surrounding Variants

2 papers

NM_001204.7

p.T793_A796del4

c.2377_2387del12

1 paper

NM_001204.7

p.T793A

c.2377A>G

5 papers

NM_001204.7

p.T793T

c.2379A>C

1 paper

NM_001204.7

p.V788I

c.2362G>A

1 paper

NM_001204.7

p.I794I

c.2382C>T

1 paper

NM_001204.7

p.G787*

c.2359G>T

1 paper

NM_001204.7

p.T786S

c.2357C>G

6 papers

NM_001204.7

p.A796delFs

c.2386delG

1 paper

NM_001204.7

p.A796fs

c.2386_2387fs

1 paper

NM_001204.7

p.A796fs

c.2386_2387fs

3 papers

NM_001204.7

p.V784V

c.2352C>T

1 paper

NM_001204.7

p.P799A

c.2395C>G