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

64 papers

NM_001203.3

p.Q249R

c.746A>G

Surrounding Variants

1 paper

NM_001256793.2

p.Q279L

c.836A>T

1 paper

NM_001203.3

p.Q249E

c.745C>G

1 paper

NM_001203.3

p.Y248C

c.743A>G

1 paper

NM_001203.3

p.I247V

c.739A>G

1 paper

NM_001203.3

p.L252S

c.755T>C

2 papers

NM_001203.3

p.E246Q

c.736G>C

1 paper

NM_001203.3

p.E244E

c.732G>A

2 papers

NM_001203.3

p.R254K

c.761G>A

1 paper

NM_001203.3

p.E244K

c.730G>A

1 paper

NM_001203.3

p.H255Y

c.763C>T

1 paper

NM_001203.3

p.H255R

c.764A>G

1 paper

NM_001203.3

p.R243G

c.727A>G