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.Y311H

c.931T>C

Surrounding Variants

1 paper

NM_004329.3

p.H312delFs

c.934delC

1 paper

NM_004329.3

p.H312fs

c.934_935fs

1 paper

NM_004329.3

p.H312Q

c.936T>A

1 paper

NM_004329.3

p.H312Q

c.936T>G

1 paper

NM_004329.3

p.E313_N314insA

c.937_941ins3

1 paper

NM_004329.3

p.E313delFs

c.939delA

1 paper

NM_004329.3

p.E313fs

c.937_938fs

1 paper

NM_004329.3

p.N314S

c.941A>G

1 paper

NM_004329.3

p.G315R

c.943G>A

1 paper

NM_004329.3

p.G315R

c.943G>C

1 paper

NM_004329.3

p.Y306C

c.917A>G

1 paper

NM_004329.3

p.L317_Y318delFs

c.949_952del4