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.E368fs

c.1102_1103fs

Surrounding Variants

1 paper

NM_001204.7

p.E369K

c.1105G>A

1 paper

NM_001204.7

p.E369*

c.1105G>T

2 papers

NM_001204.7

p.E369E

c.1107A>G

2 papers

NM_001204.7

p.G367_E368delFs

c.1099_1103del5

1 paper

NM_001204.7

p.P366fs

c.1096_1097fs

3 papers

NM_001204.7

p.R365H

c.1094G>A

2 papers

NM_001204.7

p.R365delFs

c.1095delC

2 papers

NM_001204.7

p.R365C

c.1093C>T

1 paper

NM_001204.7

p.R365fs

c.1093_1094fs

3 papers

NM_001204.7

p.R365_P366Fs

c.1093_1098delinsGFs

2 papers

NM_001204.7

p.N371_A372insFs

c.1113_1114insT

1 paper

NM_001204.7

p.N371delFs

c.1113delT