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

Selected Variant

1 paper

NM_004329.3

p.A293_A294insC

c.877_881ins3

Surrounding Variants

1 paper

NM_004329.3

p.A293V

c.878C>T

1 paper

NM_004329.3

p.I292L

c.874A>C

1 paper

NM_004329.3

p.I292V

c.874A>G

1 paper

NM_004329.3

p.A294T

c.880G>A

1 paper

NM_004329.3

p.F291S

c.872T>C

1 paper

NM_004329.3

p.D295H

c.883G>C

1 paper

NM_004329.3

p.F291insFs

c.871_872insA

1 paper

NM_004329.3

p.D295G

c.884A>G

1 paper

NM_004329.3

p.G290insFs

c.869_870insT

4 papers

NM_004329.3

p.I296delFs

c.888delT

1 paper

NM_004329.3

p.G298D

c.893G>A

1 paper

NM_004329.3

p.T299insFs

c.896_897insG