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.P435S

c.1303C>T

Surrounding Variants

1 paper

NM_001203.3

p.S436F

c.1307C>T

1 paper

NM_001203.3

p.P432S

c.1294C>T

1 paper

NM_001203.3

p.M440V

c.1318A>G

1 paper

NM_001203.3

p.H428Y

c.1282C>T

1 paper

NM_001203.3

p.I443T

c.1328T>C

1 paper

NM_001203.3

p.V444L

c.1330G>T

1 paper

NM_001203.3

p.R450C

c.1348C>T

1 paper

NM_001203.3

p.I419_E421del3

c.1255_1262del9

1 paper

NM_001203.3

p.S452*

c.1355C>A

1 paper

NM_001203.3

p.S452*

c.1355C>G

1 paper

NM_001203.3

p.S452L

c.1355C>T

1 paper

NM_001203.3

p.P454T

c.1360C>A