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.H285Q

c.855T>G

Surrounding Variants

1 paper

NM_004329.3

p.H285Q

c.855T>A

1 paper

NM_004329.3

p.E286K

c.856G>A

2 papers

NM_004329.3

p.H285Y

c.853C>T

1 paper

NM_004329.3

p.R284H

c.851G>A

3 papers

NM_004329.3

p.R284L

c.851G>T

1 paper

NM_004329.3

p.R284G

c.850C>G

2 papers

NM_004329.3

p.R284C

c.850C>T

1 paper

NM_004329.3

p.I288_L289insC

c.862_866ins3

1 paper

NM_004329.3

p.I288M

c.864A>G

1 paper

NM_004329.3

p.L289insFs

c.865_866insT

1 paper

NM_004329.3

p.L282Q

c.845T>A

1 paper

NM_004329.3

p.L282L

c.844C>T