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.D429insFs

c.1285_1286insC

Surrounding Variants

1 paper

NM_004329.3

p.D429N

c.1285G>A

2 papers

NM_004329.3

p.D429V

c.1286A>T

1 paper

NM_004329.3

p.A428V

c.1283C>T

1 paper

NM_004329.3

p.I430T

c.1289T>C

1 paper

NM_004329.3

p.I430M

c.1290C>G

1 paper

NM_004329.3

p.I426V

c.1276A>G

1 paper

NM_004329.3

p.Y425*

c.1275C>A

2 papers

NM_004329.3

p.Y425*

c.1275C>G

1 paper

NM_004329.3

p.Y425C

c.1274A>G

1 paper

NM_004329.3

p.Y425F

c.1274A>T

1 paper

NM_004329.3

p.F433delFs

c.1299delC

2 papers

NM_004329.3

p.P424T

c.1270C>A