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

3 papers

NM_004329.3

p.Y245N

c.733T>A

Surrounding Variants

1 paper

NM_004329.3

p.Y245insFs

c.733dupT

1 paper

NM_004329.3

p.R244Q

c.731G>A

2 papers

NM_004329.3

p.Y245*

c.735T>A

2 papers

NM_004329.3

p.Y245*

c.735T>G

2 papers

NM_004329.3

p.R244*

c.730C>T

2 papers

NM_004329.3

p.G246*

c.736G>T

1 paper

NM_004329.3

p.G243fs

c.727_728fs

1 paper

NM_004329.3

p.G241_R244delFs

c.723_730del8

1 paper

NM_004329.3

p.W249*

c.746G>A

1 paper

NM_004329.3

p.V240V

c.720T>G

1 paper

NM_004329.3

p.W249*

c.747G>A

1 paper

NM_004329.3

p.M250V

c.748A>G