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

5 papers

NM_001203.3

p.W219*

c.656G>A

Surrounding Variants

5 papers

NM_001203.3

p.W219*

c.657G>A

1 paper

NM_001203.3

p.K222E

c.664A>G

1 paper

NM_001203.3

p.W223_F234ins4

c.667_702dup36

1 paper

NM_001203.3

p.W223fs

c.667_668fs

1 paper

NM_001203.3

p.W223*

c.669G>A

1 paper

NM_001203.3

p.W223_R224insFs

c.669_670ins11

1 paper

NM_001203.3

p.R224C

c.670C>T

9 papers

NM_001256793.2

p.R254H

c.761G>A

NM_001203.3

p.R224H

c.671G>A

1 paper

NM_001203.3

p.R224L

c.671G>T

3 papers

NM_001203.3

p.R214C

c.640C>T

1 paper

NM_001203.3

p.V228delFs

c.682delG

1 paper

NM_001203.3

p.G211R

c.631G>A