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

2 papers

NM_004329.3

p.P410L

c.1229C>T

Surrounding Variants

1 paper

NM_004329.3

p.P410_I426del0

c.1230_1277del48

1 paper

NM_004329.3

p.P410T

c.1228C>A

2 papers

NM_004329.3

p.E411K

c.1231G>A

1 paper

NM_004329.3

p.P410delFs

c.1229delC

1 paper

NM_004329.3

p.A409T

c.1225G>A

1 paper

NM_004329.3

p.M408I

c.1224G>A

1 paper

NM_004329.3

p.M408I

c.1224G>C

1 paper

NM_004329.3

p.M408I

c.1224G>T

5 papers

NM_004329.3

p.V412A

c.1235T>C

1 paper

NM_004329.3

p.V412V

c.1236G>A

1 paper

NM_004329.3

p.L413_S416del4

c.1237_1247del12

1 paper

NM_004329.3

p.L413insFs

c.1238_1239insA