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.G374R

c.1120G>C

Surrounding Variants

1 paper

NM_004329.3

p.G374R

c.1120G>A

1 paper

NM_004329.3

p.G374fs

c.1120_1121fs

2 papers

NM_004329.3

p.G374E

c.1121G>A

1 paper

NM_004329.3

p.N373insFs

c.1119dupT

1 paper

NM_004329.3

p.K372fs

c.1114_1115fs

2 papers

NM_004329.3

p.K372*

c.1114A>T

8 papers

NM_004329.3

p.C376Y

c.1127G>A

1 paper

NM_004329.3

p.K372delFs

c.1114delA

2 papers

NM_004329.3

p.K371_K372insFs

c.1113_1114insG

2 papers

NM_004329.3

p.K371T

c.1112A>C

1 paper

NM_004329.3

p.A379T

c.1135G>A

1 paper

NM_004329.3

p.A379P

c.1135G>C