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.L96F

c.288A>C

Surrounding Variants

1 paper

NM_004329.3

p.L96_A97insFs

c.288_289insC

1 paper

NM_004329.3

p.L96F

c.288A>T

1 paper

NM_004329.3

p.S98insFs

c.293_294insC

1 paper

NM_004329.3

p.S98_G99delFs

c.294_297del4

1 paper

NM_004329.3

p.T94T

c.282C>A

1 paper

NM_004329.3

p.T94S

c.281C>G

1 paper

NM_004329.3

p.T94S

c.280A>T

2 papers

NM_004329.3

p.C100Y

c.299G>A

1 paper

NM_004329.3

p.E93delFs

c.278delA

1 paper

NM_004329.3

p.M101_Y103delFs

c.301_307del7

2 papers

NM_004329.3

p.M101I

c.303G>A

2 papers

NM_004329.3

p.M101I

c.303G>C