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

5 papers

NM_001204.7

p.L334*

c.1001T>A

Surrounding Variants

6 papers

NM_001204.7

p.L334*

c.1001T>G

1 paper

NM_001204.7

p.L334I

c.1000T>A

1 paper

NM_001204.7

p.R332Q

c.995G>A

1 paper

NM_001204.7

p.R332P

c.995G>C

40 papers

NM_001204.7

p.R332*

c.994C>T

2 papers

NM_001204.7

p.R337fs

c.1009_1010fs

2 papers

NM_001204.7

p.R337_V339delFs

c.1011_1015del5

3 papers

NM_001204.7

p.H331R

c.992A>G

1 paper

NM_001204.7

p.H331Y

c.991C>T

1 paper

NM_001204.7

p.V339delFs

c.1015_1016delGT

1 paper

NM_001204.7

p.S330F

c.989C>T

2 papers

NM_001204.7

p.V339_L340insAA

c.1015_1019ins6