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

41 papers

NM_004329.3

p.R443C

c.1327C>T

Surrounding Variants

5 papers

NM_004329.3

p.R443H

c.1328G>A

8 papers

NM_004329.3

p.R442H

c.1325G>A

2 papers

NM_004329.3

p.R442C

c.1324C>T

1 paper

NM_004329.3

p.R442delFs

c.1325_1326delGT

1 paper

NM_004329.3

p.I445V

c.1333A>G

1 paper

NM_004329.3

p.I445F

c.1333A>T

1 paper

NM_004329.3

p.A441T

c.1321G>A

1 paper

NM_004329.3

p.A441_R442insT

c.1321_1325ins3

1 paper

NM_004329.3

p.M440T

c.1319T>C

2 papers

NM_004329.3

p.M440V

c.1318A>G

1 paper

NM_004329.3

p.E439*

c.1315G>T

2 papers

NM_004329.3

p.W438*

c.1313G>A