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

5 papers

NM_004329.3

p.R254C

c.760C>T

Surrounding Variants

5 papers

NM_004329.3

p.R254H

c.761G>A

1 paper

NM_004329.3

p.W253*

c.759G>A

1 paper

NM_004329.3

p.W253*

c.758G>A

1 paper

NM_004329.3

p.G255D

c.764G>A

1 paper

NM_004329.3

p.G255insFs

c.765dupC

1 paper

NM_004329.3

p.K252R

c.755A>G

1 paper

NM_004329.3

p.E256K

c.766G>A

2 papers

NM_004329.3

p.E256delins

c.766_767delinsTC

1 paper

NM_004329.3

p.E256_K257insFs

c.768_769insAG

1 paper

NM_004329.3

p.G251A

c.752G>C

5 papers

NM_004329.3

p.G251C

c.751G>T

2 papers

NM_004329.3

p.M250T

c.749T>C