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

1–12 of 261 variants

64 papers

NM_001203.3

p.Q249R

c.746A>G

16 papers

NM_001203.3

p.R486Q

c.1457G>A

15 papers

NM_001203.3

p.I200K

c.599T>A

13 papers

NM_001203.3

p.R486W

c.1456C>T

11 papers

NM_001203.3

p.F392L

c.1176C>A

10 papers

NM_001203.3

p.F392L

c.1174T>C

10 papers

NM_001203.3

p.F392L

c.1176C>G

9 papers

NM_001203.3

p.R31C

c.91C>T

9 papers

NM_001203.3

p.S160N

c.479G>A

8 papers

NM_001203.3

p.C53R

c.157T>C

6 papers

NM_001203.3

p.R371Q

c.1112G>A

5 papers

NM_001203.3

p.R31H

c.92G>A