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

5 papers

NM_001203.3

p.R413S

c.1239A>C

Surrounding Variants

5 papers

NM_001203.3

p.R413S

c.1239A>T

1 paper

NM_001203.3

p.C414Y

c.1241G>A

1 paper

NM_001203.3

p.V415_S416delFs

c.1245_1248del4

1 paper

NM_001203.3

p.G417E

c.1250G>A

1 paper

NM_001203.3

p.E409G

c.1226A>G

3 papers

NM_001203.3

p.M397R

c.1190T>G

1 paper

NM_001203.3

p.M397V

c.1189A>G

1 paper

NM_001203.3

p.Y395insFs

c.1183dupT

11 papers

NM_001203.3

p.F392L

c.1176C>A

10 papers

NM_001203.3

p.F392L

c.1176C>G

10 papers

NM_001203.3

p.F392L

c.1174T>C

1 paper

NM_001203.3

p.R389G

c.1165A>G