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.Q454_L455insC

c.1360_1364ins3

Surrounding Variants

1 paper

NM_004329.3

p.Q454H

c.1362A>C

1 paper

NM_004329.3

p.Q454H

c.1362A>T

1 paper

NM_004329.3

p.E452E

c.1356A>G

1 paper

NM_004329.3

p.L455S

c.1364T>C

1 paper

NM_004329.3

p.E452G

c.1355A>G

1 paper

NM_004329.3

p.E451Fs

c.1352delinsACFs

1 paper

NM_004329.3

p.E451V

c.1352A>T

1 paper

NM_004329.3

p.E452del1

c.1354_1355delGAA

6 papers

NM_004329.3

p.V450M

c.1348G>A

1 paper

NM_004329.3

p.V450L

c.1348G>C

1 paper

NM_004329.3

p.V450L

c.1348G>T

1 paper

NM_004329.3

p.Y458F

c.1373A>T