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.G80R

c.238G>A

Surrounding Variants

1 paper

NM_004329.3

p.G80R

c.238G>C

2 papers

NM_004329.3

p.G80A

c.239G>C

1 paper

NM_004329.3

p.G80insFs

c.238_239insG

1 paper

NM_004329.3

p.N79insFs

c.235_236insG

7 papers

NM_004329.3

p.T78I

c.233C>T

1 paper

NM_004329.3

p.T78A

c.232A>G

8 papers

NM_004329.3

p.C82Y

c.245G>A

1 paper

NM_004329.3

p.C82F

c.245G>T

1 paper

NM_004329.3

p.I77Splc

c.231-1G>T

1 paper

NM_004329.3

p.I77Splc

c.231-2A>T

2 papers

NM_004329.3

p.A84T

c.250G>A

1 paper

NM_004329.3

p.I85I

c.255C>T