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.R26P

c.77G>C

Surrounding Variants

2 papers

NM_001203.3

p.R26H

c.77G>A

1 paper

NM_001203.3

p.R26fs

c.76_77fs

1 paper

NM_001203.3

p.P27R

c.80C>G

1 paper

NM_001203.3

p.T24insFs

c.71dupC

1 paper

NM_001203.3

p.T24fs

c.70_71fs

1 paper

NM_001203.3

p.T24P

c.70A>C

1 paper

NM_001203.3

p.T24delFs

c.71delC

1 paper

NM_001203.3

p.V29L

c.85G>C

1 paper

NM_001203.3

p.P23S

c.67C>T

1 paper

NM_001203.3

p.A22A

c.66C>G

9 papers

NM_001203.3

p.R31C

c.91C>T

1 paper

NM_001203.3

p.T21I

c.62C>T