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.E129*

c.385G>T

Surrounding Variants

1 paper

NM_001204.7

p.T128N

c.383C>A

1 paper

NM_001204.7

p.T128I

c.383C>T

1 paper

NM_001204.7

p.E129_N130insFs

c.387_388insC

1 paper

NM_001204.7

p.N126K

c.378C>A

1 paper

NM_001204.7

p.N126K

c.378C>G

1 paper

NM_001204.7

p.N126T

c.377A>C

12 papers

NM_001204.7

p.N126S

c.377A>G

1 paper

NM_001204.7

p.P132A

c.394C>G

2 papers

NM_001204.7

p.V125D

c.374T>A

2 papers

NM_001204.7

p.P133fs

c.397_398fs

1 paper

NM_001204.7

p.P133A

c.397C>G

2 papers

NM_001204.7

p.P133S

c.397C>T