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.S4fs

c.10_11fs

Surrounding Variants

1 paper

NM_001204.7

p.S4fs

c.10_11fs

1 paper

NM_001204.7

p.S4delins

c.11delinsA

1 paper

NM_001204.7

p.S3_S4insFs

c.9_10insA

2 papers

NM_001204.7

p.S3_S4ins1

c.9_10insGGG

1 paper

NM_001204.7

p.S3insFs

c.8_9insGA

1 paper

NM_001204.7

p.S4S

c.12G>A

1 paper

NM_001204.7

p.S4S

c.12G>C

1 paper

NM_001204.7

p.L5delins

c.13delinsTTCT

3 papers

NM_001204.7

p.S3insFs

c.9dupC

1 paper

NM_001204.7

p.T2T

c.6T>G

2 papers

NM_001204.7

p.L5_R7delFs

c.15_19del5

1 paper

NM_001204.7

p.T2_S3Fs

c.6_7delinsAFs