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.R376H

c.1127G>A

Surrounding Variants

1 paper

NM_001203.3

p.R376C

c.1126C>T

1 paper

NM_001203.3

p.G373G

c.1119C>T

1 paper

NM_001203.3

p.G373D

c.1118G>A

1 paper

NM_001203.3

p.V372L

c.1114G>C

6 papers

NM_001203.3

p.R371Q

c.1112G>A

1 paper

NM_001256793.2

p.R401*

c.1201C>T

1 paper

NM_001203.3

p.T370I

c.1109C>T

1 paper

NM_001203.3

p.N369Y

c.1105A>T

1 paper

NM_001203.3

p.P368S

c.1102C>T

1 paper

NM_001203.3

p.I366delFs

c.1096delA

1 paper

NM_001203.3

p.L387_N388insC

c.1159_1163ins3

1 paper

NM_001203.3

p.R389G

c.1165A>G