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.R471C

c.1411C>T

Surrounding Variants

3 papers

NM_004329.3

p.R471H

c.1412G>A

6 papers

NM_004329.3

p.M470T

c.1409T>C

1 paper

NM_004329.3

p.M470delFs

c.1410delG

1 paper

NM_004329.3

p.E472D

c.1416G>C

1 paper

NM_004329.3

p.E472D

c.1416G>T

1 paper

NM_004329.3

p.V473delFs

c.1419delT

1 paper

NM_004329.3

p.D469_R471del3

c.1405_1412del9

1 paper

NM_004329.3

p.V473_V474delFs

c.1419_1420delTG

3 papers

NM_004329.3

p.E468K

c.1402G>A

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