Varaico: Literature-Extracted Genetic Variants

BMPR1B

294 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 BMPs, which are members of the TGF-beta s...

Pfam Domains

Activin_recpaa 29–109UCSCActivin types I and II receptor domain

TGF_beta_GSaa 175–202UCSCTransforming growth factor beta type I GS-motif

PK_Tyr_Ser-Thraa 204–491UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

bone morphogenetic protein receptor type 1B

HGNC Alias Symbols

ALK6; CDw293

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001203.3

p.S62A

c.184T>G

Surrounding Variants

3 papers

NM_001203.3

p.L64L

c.192G>A

1 paper

NM_001203.3

p.P65S

c.193C>T

1 paper

NM_001203.3

p.P65P

c.195T>C

1 paper

NM_001203.3

p.V67D

c.200T>A

1 paper

NM_001203.3

p.T68S

c.202A>T

2 papers

NM_001203.3

p.S69Y

c.206C>A

1 paper

NM_001203.3

p.G70R

c.208G>C

3 papers

NM_001203.3

p.C53Y

c.158G>A

1 paper

NM_001203.3

p.C71del1

c.211_212delTGC

8 papers

NM_001203.3

p.C53R

c.157T>C

1 paper

NM_001203.3

p.G76D

c.227G>A

1 paper

NM_001203.3

p.R82Q

c.245G>A