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.K177Splc

c.531-1G>T

Surrounding Variants

1 paper

NM_004329.3

p.K177Splc

c.531-2A>G

1 paper

NM_004329.3

p.H178Y

c.532C>T

1 paper

NM_004329.3

p.Y179insFs

c.537dupT

7 papers

NM_004329.3

p.Y179C

c.536A>G

1 paper

NM_004329.3

p.K181delFs

c.541delA

1 paper

NM_004329.3

p.K181R

c.542A>G

2 papers

NM_004329.3

p.K181N

c.543G>C

2 papers

NM_004329.3

p.K181N

c.543G>T

1 paper

NM_004329.3

p.K181_S184delins

c.543_550delinsAG

2 papers

NM_004329.3

p.S182N

c.545G>A

1 paper

NM_004329.3

p.S184L

c.551C>T

1 paper

NM_004329.3

p.S185N

c.554G>A