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

2 papers

NM_004329.3

p.R329S

c.987A>T

Surrounding Variants

2 papers

NM_004329.3

p.R329S

c.987A>C

1 paper

NM_004329.3

p.R329K

c.986G>A

1 paper

NM_004329.3

p.A330A

c.990C>T

1 paper

NM_004329.3

p.T328S

c.983C>G

1 paper

NM_004329.3

p.L331V

c.991C>G

1 paper

NM_004329.3

p.T328S

c.982A>T

1 paper

NM_004329.3

p.D327H

c.979G>C

3 papers

NM_004329.3

p.L332P

c.995T>C

1 paper

NM_004329.3

p.K333Q

c.997A>C

1 paper

NM_004329.3

p.L334M

c.1000T>A

1 paper

NM_004329.3

p.T325A

c.973A>G

2 papers

NM_004329.3

p.L334S

c.1001T>C