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.M1I

c.3G>C

Surrounding Variants

1 paper

NM_001203.3

p.M1I

c.3G>A

1 paper

NM_001203.3

p.M1_L2insFs

c.3_4insT

1 paper

NM_001203.3

p.M1I

c.3G>T

1 paper

NM_001203.3

p.M1T

c.2T>C

1 paper

NM_001203.3

p.M1R

c.2T>G

1 paper

NM_001203.3

p.L3F

c.9G>C

2 papers

NM_001203.3

p.R4Q

c.11G>A

1 paper

NM_001203.3

p.S5R

c.13A>C

1 paper

NM_001203.3

p.S5R

c.15T>A

1 paper

NM_001203.3

p.S5R

c.15T>G

1 paper

NM_001203.3

p.A6A

c.18A>T

1 paper

NM_001203.3

p.K8E

c.22A>G