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

2 papers

NM_001204.7

p.Q844R

c.2531A>G

Surrounding Variants

2 papers

NM_001204.7

p.E845delFs

c.2533delG

3 papers

NM_001204.7

p.Q844*

c.2530C>T

6 papers

NM_001204.7

p.E845*

c.2533G>T

1 paper

NM_001204.7

p.A843fs

c.2527_2528fs

1 paper

NM_001204.7

p.A843fs

c.2527_2528fs

3 papers

NM_001204.7

p.A843delFs

c.2527delG

1 paper

NM_001204.7

p.R842fs

c.2524_2525fs

2 papers

NM_001204.7

p.H841fs

c.2521_2522fs

2 papers

NM_001204.7

p.H841delFs

c.2522delA

2 papers

NM_001204.7

p.Q848_N849insATA

c.2542_2546ins9

2 papers

NM_001204.7

p.Q848*

c.2542C>T

3 papers

NM_001204.7

p.H841insFs

c.2521_2522dupCA