Varaico: Literature-Extracted Genetic Variants

BMPR1A

682 papers

RefSeq Summary

The bone morphogenetic protein (BMP) receptors are a family of transmembrane serine/threonine kinases that include the type I receptors BMPR1A and BMPR1B and the type II receptor BMPR2. These receptor...

Pfam Domains

Activin_recpaa 58–137UCSCActivin types I and II receptor domain

TGF_beta_GSaa 205–232UCSCTransforming growth factor beta type I GS-motif

PK_Tyr_Ser-Thraa 234–521UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

bone morphogenetic protein receptor type 1A

HGNC Previous Symbol

ACVRLK3

Papers

RefSeq ID

Protein change

DNA change

1–12 of 829 variants

42 papers

NM_004329.3

p.P2T

c.4C>A

41 papers

NM_004329.3

p.R443C

c.1327C>T

15 papers

NM_004329.3

p.E415K

c.1243G>A

12 papers

NM_004329.3

p.R273*

c.817C>T

11 papers

NM_004329.3

p.C124R

c.370T>C

11 papers

NM_004329.3

p.Q239*

c.715C>T

11 papers

NM_004329.3

p.G382D

c.1145G>A

10 papers

NM_004329.3

p.A338D

c.1013C>A

9 papers

NM_004329.3

p.W271*

c.812G>A

9 papers

NM_004329.3

p.R361*

c.1081C>T

9 papers

NM_004329.3

p.R478H

c.1433G>A

8 papers

NM_004329.3

p.C82Y

c.245G>A