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.L129L

c.387A>G

Surrounding Variants

1 paper

NM_004329.3

p.L129_C130insFs

c.387_388insC

7 papers

NM_004329.3

p.C130R

c.388T>C

1 paper

NM_004329.3

p.C130Y

c.389G>A

2 papers

NM_004329.3

p.L129I

c.385T>A

2 papers

NM_004329.3

p.N128S

c.383A>G

1 paper

NM_004329.3

p.N128Y

c.382A>T

1 paper

NM_004329.3

p.N131_Q132insFs

c.393_394insT

1 paper

NM_004329.3

p.N131N

c.393C>T

1 paper

NM_004329.3

p.Q132delFs

c.394_395delCA

1 paper

NM_004329.3

p.Q132insFs

c.395dupA

1 paper

NM_004329.3

p.T127I

c.380C>T

1 paper

NM_004329.3

p.Q132*

c.394C>T