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.Q304R

c.911A>G

Surrounding Variants

2 papers

NM_004329.3

p.Q304K

c.910C>A

1 paper

NM_004329.3

p.Q304*

c.910C>T

1 paper

NM_004329.3

p.L305R

c.914T>G

1 paper

NM_004329.3

p.T303A

c.907A>G

1 paper

NM_004329.3

p.Y306C

c.917A>G

1 paper

NM_004329.3

p.S301Y

c.902C>A

1 paper

NM_004329.3

p.S301_L307del7

c.901_920del21

1 paper

NM_004329.3

p.T299insFs

c.896_897insG

1 paper

NM_004329.3

p.G298D

c.893G>A

1 paper

NM_004329.3

p.Y311H

c.931T>C

1 paper

NM_004329.3

p.H312delFs

c.934delC

1 paper

NM_004329.3

p.H312fs

c.934_935fs