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.C347W

c.1041T>G

Surrounding Variants

2 papers

NM_001204.7

p.C347*

c.1041T>A

1 paper

NM_001204.7

p.V348_S350delFs

c.1044_1050del7

22 papers

NM_001204.7

p.V348I

c.1042G>A

21 papers

NM_001204.7

p.C347Y

c.1040G>A

2 papers

NM_001204.7

p.V348delFs

c.1044delT

16 papers

NM_001204.7

p.C347R

c.1039T>C

1 paper

NM_001204.7

p.V348_S350Fs

c.1044_1050delinsGGTFs

2 papers

NM_001204.7

p.I349fs

c.1045_1046fs

2 papers

NM_001204.7

p.T346delFs

c.1037delC

1 paper

NM_001204.7

p.D351V

c.1052A>T

1 paper

NM_001204.7

p.F352insFs

c.1056dupT

2 papers

NM_001204.7

p.N343fs

c.1027_1028fs