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.C125G

c.373T>G

Surrounding Variants

4 papers

NM_004329.3

p.C124Y

c.371G>A

1 paper

NM_004329.3

p.R126G

c.376C>G

1 paper

NM_004329.3

p.R126delFs

c.377delG

11 papers

NM_004329.3

p.C124R

c.370T>C

1 paper

NM_004329.3

p.R126L

c.377G>T

1 paper

NM_004329.3

p.T127_N128insFs

c.380_383dup4

2 papers

NM_004329.3

p.T127delFs

c.379delA

2 papers

NM_004329.3

p.T127fs

c.379_380fs

1 paper

NM_004329.3

p.E123K

c.367G>A

2 papers

NM_004329.3

p.E123fs

c.367_368fs

1 paper

NM_004329.3

p.E123*

c.367G>T

1 paper

NM_004329.3

p.E123delFs

c.367delG