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.V487D

c.1460T>A

Surrounding Variants

16 papers

NM_001203.3

p.R486Q

c.1457G>A

3 papers

NM_001203.3

p.R486L

c.1457G>T

13 papers

NM_001203.3

p.R486W

c.1456C>T

1 paper

NM_001203.3

p.K489K

c.1467A>G

1 paper

NM_001203.3

p.T483I

c.1448C>T

1 paper

NM_001203.3

p.E496V

c.1487A>T

1 paper

NM_001203.3

p.K501E

c.1501A>G

1 paper

NM_001203.3

p.M470delFs

c.1410delG

1 paper

NM_001203.3

p.E461_C462Splc

c.1384-8T>C

1 paper

NM_001256793.2

p.R486Q

c.1457G>A

2 papers

NM_001203.3

p.R456W

c.1366C>T

1 paper

NM_001203.3

p.P454Q

c.1361C>A