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.V101I

c.301G>A

Surrounding Variants

6 papers

NM_001204.7

p.T102A

c.304A>G

1 paper

NM_001204.7

p.V100fs

c.298_299fs

1 paper

NM_001204.7

p.C99W

c.297T>G

4 papers

NM_001204.7

p.C99Y

c.296G>A

1 paper

NM_001204.7

p.C99S

c.296G>C

4 papers

NM_001204.7

p.C99F

c.296G>T

1 paper

NM_001204.7

p.C99S

c.295T>A

6 papers

NM_001204.7

p.C99R

c.295T>C

1 paper

NM_001204.7

p.C99delFs

c.295_296delTG

3 papers

NM_001204.7

p.T104A

c.310A>G

4 papers

NM_001204.7

p.E98K

c.292G>A

3 papers

NM_001204.7

p.E98*

c.292G>T