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.D490E

c.1470T>A

Surrounding Variants

1 paper

NM_004329.3

p.D490E

c.1470T>G

1 paper

NM_004329.3

p.D490_E491insFs

c.1470_1471insA

2 papers

NM_004329.3

p.E491K

c.1471G>A

1 paper

NM_004329.3

p.E491D

c.1473A>C

1 paper

NM_004329.3

p.E491E

c.1473A>G

1 paper

NM_004329.3

p.S489T

c.1466G>C

1 paper

NM_004329.3

p.S489G

c.1465A>G

1 paper

NM_004329.3

p.N488D

c.1462A>G

1 paper

NM_004329.3

p.N488_E491del0

c.1462_1473del12

5 papers

NM_004329.3

p.W487R

c.1459T>A

5 papers

NM_004329.3

p.W487R

c.1459T>C

3 papers

NM_004329.3

p.R486Q

c.1457G>A