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

9 papers

NM_004329.3

p.R478H

c.1433G>A

Surrounding Variants

2 papers

NM_004329.3

p.R478C

c.1432C>T

3 papers

NM_004329.3

p.K477I

c.1430A>T

8 papers

NM_004329.3

p.R480W

c.1438C>T

3 papers

NM_004329.3

p.R480L

c.1439G>T

1 paper

NM_004329.3

p.V476fs

c.1426_1427fs

2 papers

NM_004329.3

p.P481S

c.1441C>T

2 papers

NM_004329.3

p.V474L

c.1420G>C

1 paper

NM_004329.3

p.V474insFs

c.1421dupT

2 papers

NM_004329.3

p.V474L

c.1420G>T

1 paper

NM_004329.3

p.V474delFs

c.1421delT

1 paper

NM_004329.3

p.V474fs

c.1420_1421fs

1 paper

NM_004329.3

p.V473_V474delFs

c.1419_1420delTG