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.A201T

c.601G>A

Surrounding Variants

15 papers

NM_001203.3

p.I200K

c.599T>A

1 paper

NM_001203.3

p.T199I

c.596C>T

1 paper

NM_001203.3

p.Q203R

c.608A>G

1 paper

NM_001203.3

p.R198fs

c.592_593fs

1 paper

NM_001203.3

p.Q197_A201delFs

c.590_602del13

1 paper

NM_001203.3

p.Q209R

c.626A>G

1 paper

NM_001203.3

p.I210F

c.628A>T

1 paper

NM_001203.3

p.G211R

c.631G>A

3 papers

NM_001203.3

p.R214C

c.640C>T

5 papers

NM_001203.3

p.W219*

c.656G>A

5 papers

NM_001203.3

p.W219*

c.657G>A

1 paper

NM_001203.3

p.K222E

c.664A>G