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.M356I

c.1068G>C

Surrounding Variants

2 papers

NM_001204.7

p.M356I

c.1068G>A

2 papers

NM_001204.7

p.M356I

c.1068G>T

1 paper

NM_001204.7

p.M356T

c.1067T>C

3 papers

NM_001204.7

p.M356L

c.1066A>C

3 papers

NM_001204.7

p.M356L

c.1066A>T

1 paper

NM_001204.7

p.T359fs

c.1075_1076fs

1 paper

NM_001204.7

p.T359delFs

c.1076delC

1 paper

NM_001204.7

p.T359fs

c.1075_1076fs

1 paper

NM_001204.7

p.L354L

c.1060C>T

2 papers

NM_001204.7

p.L354fs

c.1060_1061fs

2 papers

NM_001204.7

p.L354delFs

c.1060delC

2 papers

NM_001204.7

p.G360del1

c.1078_1079delGGA