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

4 papers

NM_001204.7

p.C496R

c.1486T>C

Surrounding Variants

1 paper

NM_001204.7

p.C496G

c.1486T>G

8 papers

NM_001204.7

p.C496Y

c.1487G>A

2 papers

NM_001204.7

p.A497_E503del0

c.1490_1507del18

1 paper

NM_001204.7

p.Q495fs

c.1483_1484fs

7 papers

NM_001204.7

p.Q495*

c.1483C>T

8 papers

NM_001204.7

p.A494V

c.1481C>T

3 papers

NM_001204.7

p.T493I

c.1478C>T

2 papers

NM_001204.7

p.T493fs

c.1477_1478fs

2 papers

NM_001204.7

p.T493insFs

c.1477dupA

38 papers

NM_001204.7

p.R491Q

c.1472G>A

48 papers

NM_001204.7

p.R491W

c.1471C>T

1 paper

NM_001204.7

p.R491fs

c.1471_1472fs