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

3 papers

NM_004329.3

p.V226F

c.676G>T

Surrounding Variants

1 paper

NM_004329.3

p.Q227Q

c.681G>A

1 paper

NM_004329.3

p.L225_V226Splc

c.676-6A>C

4 papers

NM_004329.3

p.R228*

c.682C>T

1 paper

NM_004329.3

p.T229T

c.687T>G

1 paper

NM_004329.3

p.I230M

c.690T>G

1 paper

NM_004329.3

p.A231insFs

c.692dupC

1 paper

NM_004329.3

p.K232*

c.694A>T

2 papers

NM_004329.3

p.K232R

c.695A>G

4 papers

NM_004329.3

p.Q233*

c.697C>T

1 paper

NM_004329.3

p.Q233_I234delFs

c.699_700delGA

1 paper

NM_004329.3

p.Q233R

c.698A>G

1 paper

NM_004329.3

p.Q235_M236insG

c.703_707ins3