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.R934T

c.2801G>C

Surrounding Variants

1 paper

NM_001204.7

p.A935V

c.2804C>T

1 paper

NM_001204.7

p.P932H

c.2795C>A

1 paper

NM_001204.7

p.K931N

c.2793G>C

1 paper

NM_001204.7

p.K931N

c.2793G>T

12 papers

NM_001204.7

p.R937R

c.2811G>A

7 papers

NM_001204.7

p.S930*

c.2789C>A

1 paper

NM_001204.7

p.P938H

c.2813C>A

7 papers

NM_001204.7

p.S930*

c.2789C>G

1 paper

NM_001204.7

p.S940Y

c.2819C>A

1 paper

NM_001204.7

p.A925V

c.2774C>T

1 paper

NM_001204.7

p.A925_D926del2

c.2773_2777del6

1 paper

NM_001204.7

p.A945T

c.2833G>A