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

3 papers

NM_001204.7

p.R7delFs

c.21delG

Surrounding Variants

2 papers

NM_001204.7

p.R7delFs

c.19delC

1 paper

NM_001204.7

p.Q6L

c.17A>T

1 paper

NM_001204.7

p.R7_R10Fs

c.21_29delinsAFs

8 papers

NM_001204.7

p.Q6*

c.16C>T

1 paper

NM_001204.7

p.Q6fs

c.16_17fs

1 paper

NM_001204.7

p.P8fs

c.22_23fs

2 papers

NM_001204.7

p.P8_W9del1

c.24_26delCTG

2 papers

NM_001204.7

p.W9_L14delFs

c.26_41del16

2 papers

NM_001204.7

p.L5_R7delFs

c.15_19del5

1 paper

NM_001204.7

p.L5delins

c.13delinsTTCT

1 paper

NM_001204.7

p.W9delFs

c.27delG

1 paper

NM_001204.7

p.W9fs

c.25_26fs