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.C34S

c.100T>A

Surrounding Variants

4 papers

NM_001203.3

p.C34Y

c.101G>A

1 paper

NM_001203.3

p.C34S

c.101G>C

1 paper

NM_001203.3

p.H35Q

c.105C>G

1 paper

NM_001203.3

p.H36_V43insFs

c.107_128dup22

5 papers

NM_001203.3

p.R31H

c.92G>A

9 papers

NM_001203.3

p.R31C

c.91C>T

1 paper

NM_001203.3

p.V29L

c.85G>C

1 paper

NM_001203.3

p.E40G

c.119A>G

1 paper

NM_001203.3

p.P27R

c.80C>G

1 paper

NM_001203.3

p.D41Y

c.121G>T

2 papers

NM_001203.3

p.R26H

c.77G>A

1 paper

NM_001203.3

p.R26P

c.77G>C