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.Q135_T137delFs

c.403_410del8

Surrounding Variants

1 paper

NM_004329.3

p.L134L

c.402G>A

1 paper

NM_004329.3

p.Q135insFs

c.405dupA

1 paper

NM_004329.3

p.Q135*

c.403C>T

1 paper

NM_004329.3

p.L134M

c.400T>A

2 papers

NM_004329.3

p.Y133C

c.398A>G

1 paper

NM_004329.3

p.L134delFs

c.400_401delTT

1 paper

NM_004329.3

p.P136insFs

c.406_407insA

1 paper

NM_004329.3

p.Q132R

c.395A>G

1 paper

NM_004329.3

p.T137A

c.409A>G

1 paper

NM_004329.3

p.Q132insFs

c.395dupA

1 paper

NM_004329.3

p.Q132*

c.394C>T

1 paper

NM_004329.3

p.L138_P139delFs

c.413_416del4