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.G221fs

c.661_662fs

Surrounding Variants

2 papers

NM_004329.3

p.G221E

c.662G>A

1 paper

NM_004329.3

p.G221Fs

c.662_663delinsAFs

4 papers

NM_004329.3

p.L222insFs

c.665_666insT

1 paper

NM_004329.3

p.G219E

c.656G>A

1 paper

NM_004329.3

p.P223S

c.667C>T

1 paper

NM_004329.3

p.S218T

c.653G>C

3 papers

NM_004329.3

p.L225delFs

c.673delT

1 paper

NM_004329.3

p.G217D

c.650G>A

1 paper

NM_004329.3

p.G217delFs

c.649_650delGG

2 papers

NM_004329.3

p.L225L

c.675G>A

1 paper

NM_004329.3

p.L225_V226Splc

c.675+1G>A

1 paper

NM_004329.3

p.L225_V226Splc

c.675+1G>T