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.W9delFs

c.27delG

Surrounding Variants

1 paper

NM_001204.7

p.W9fs

c.25_26fs

20 papers

NM_001204.7

p.W9*

c.26G>A

2 papers

NM_001204.7

p.P8_W9del1

c.24_26delCTG

2 papers

NM_001204.7

p.W9_L14delFs

c.26_41del16

21 papers

NM_001204.7

p.W9*

c.27G>A

3 papers

NM_001204.7

p.R10W

c.28C>T

1 paper

NM_001204.7

p.P8fs

c.22_23fs

2 papers

NM_001204.7

p.R10Q

c.29G>A

1 paper

NM_001204.7

p.R7_R10Fs

c.21_29delinsAFs

1 paper

NM_001204.7

p.R10R

c.30G>A

3 papers

NM_001204.7

p.R7delFs

c.21delG

2 papers

NM_001204.7

p.R7delFs

c.19delC