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.L118fs

c.352_353fs

Surrounding Variants

1 paper

NM_004329.3

p.L118insFs

c.352_353insG

4 papers

NM_004329.3

p.L118delFs

c.353delT

1 paper

NM_004329.3

p.Q117insFs

c.351dupG

3 papers

NM_004329.3

p.Q117R

c.350A>G

6 papers

NM_004329.3

p.Q117*

c.349C>T

6 papers

NM_004329.3

p.R119C

c.355C>T

2 papers

NM_004329.3

p.R119H

c.356G>A

1 paper

NM_004329.3

p.Q117_L118insFs

c.349_352dup4

1 paper

NM_004329.3

p.A116V

c.347C>T

2 papers

NM_004329.3

p.R120W

c.358C>T

1 paper

NM_004329.3

p.A116delFs

c.347delC

2 papers

NM_004329.3

p.R120Q

c.359G>A