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

2 papers

NM_001203.3

p.G191D

c.572G>A

Surrounding Variants

1 paper

NM_001203.3

p.L192R

c.575T>G

1 paper

NM_001203.3

p.P193A

c.577C>G

1 paper

NM_001203.3

p.S186T

c.556T>A

1 paper

NM_001203.3

p.S183P

c.547T>C

1 paper

NM_001203.3

p.I180I

c.540T>A

1 paper

NM_001203.3

p.I180V

c.538A>G

1 paper

NM_001203.3

p.D178N

c.532G>A

1 paper

NM_001203.3

p.E167D

c.501A>T

1 paper

NM_001203.3

p.L163_I170delFs

c.489_510del22

9 papers

NM_001203.3

p.S160N

c.479G>A

1 paper

NM_001203.3

p.Q153R

c.458A>G

2 papers

NM_001203.3

p.R149Splc

c.447-1G>A