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

3 papers

NM_004329.3

p.L342L

c.1024C>T

Surrounding Variants

1 paper

NM_004329.3

p.L342R

c.1025T>G

2 papers

NM_004329.3

p.G341D

c.1022G>A

1 paper

NM_004329.3

p.G341V

c.1022G>T

1 paper

NM_004329.3

p.L342L

c.1026G>T

1 paper

NM_004329.3

p.G341C

c.1021G>T

1 paper

NM_004329.3

p.C343Y

c.1028G>A

1 paper

NM_004329.3

p.G341delFs

c.1021delG

1 paper

NM_004329.3

p.G341_E348del8

c.1021_1043del24

1 paper

NM_004329.3

p.H344Q

c.1032C>G

1 paper

NM_004329.3

p.L345V

c.1033C>G

1 paper

NM_004329.3

p.A339S

c.1015G>T

10 papers

NM_004329.3

p.A338D

c.1013C>A