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

26 papers

NM_001204.7

p.R873*

c.2617C>T

Surrounding Variants

9 papers

NM_001204.7

p.R873Q

c.2618G>A

1 paper

NM_001204.7

p.R873delFs

c.2619delA

5 papers

NM_001204.7

p.E874*

c.2620G>T

1 paper

NM_001204.7

p.E874fs

c.2620_2621fs

3 papers

NM_001204.7

p.Q876*

c.2626C>T

1 paper

NM_001204.7

p.L870fs

c.2608_2609fs

2 papers

NM_001204.7

p.A877_V888del12

c.2629_2663del36

2 papers

NM_001204.7

p.L870delFs

c.2609delT

1 paper

NM_001204.7

p.P869_L870insT

c.2605_2609ins3

2 papers

NM_001204.7

p.L870_L871delFs

c.2608_2612del5

1 paper

NM_001204.7

p.E868D

c.2604G>C

1 paper

NM_001204.7

p.E868D

c.2604G>T