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.K230fs

c.688_689fs

Surrounding Variants

2 papers

NM_001204.7

p.K230fs

c.688_689fs

5 papers

NM_001204.7

p.K230R

c.689A>G

2 papers

NM_001204.7

p.K230N

c.690A>C

3 papers

NM_001204.7

p.K230N

c.690A>T

2 papers

NM_001204.7

p.V231delFs

c.691delG

1 paper

NM_001204.7

p.K230_V231Fs

c.690_691delinsTFs

1 paper

NM_001204.7

p.V231_S233del0

c.691_699del9

3 papers

NM_001204.7

p.K230delFs

c.690delA

3 papers

NM_001204.7

p.K230delFs

c.689_690delAA

2 papers

NM_001204.7

p.V229_V231delFs

c.687_693del7

2 papers

NM_001204.7

p.V231fs

c.691_692fs

1 paper

NM_001204.7

p.V231fs

c.691_692fs