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.V339D

c.1016T>A

Surrounding Variants

1 paper

NM_001204.7

p.V339G

c.1016T>G

2 papers

NM_001204.7

p.V339_L340insAA

c.1015_1019ins6

1 paper

NM_001204.7

p.V339delFs

c.1015_1016delGT

5 papers

NM_001204.7

p.L340P

c.1019T>C

6 papers

NM_001204.7

p.V341M

c.1021G>A

1 paper

NM_001204.7

p.V341L

c.1021G>C

1 paper

NM_001204.7

p.V341L

c.1021G>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.N343delFs

c.1028delA

1 paper

NM_001204.7

p.K342E

c.1024A>G

2 papers

NM_001204.7

p.N343fs

c.1027_1028fs