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.P356P

c.1068C>T

Surrounding Variants

4 papers

NM_004329.3

p.A357T

c.1069G>A

3 papers

NM_004329.3

p.P356S

c.1066C>T

1 paper

NM_004329.3

p.A357V

c.1070C>T

1 paper

NM_004329.3

p.G354Fs

c.1061delinsCAFs

1 paper

NM_004329.3

p.K355delFs

c.1064delA

4 papers

NM_004329.3

p.G354delFs

c.1061delG

2 papers

NM_004329.3

p.Q353R

c.1058A>G

2 papers

NM_004329.3

p.Q353*

c.1057C>T

1 paper

NM_004329.3

p.R361R

c.1081C>A

3 papers

NM_004329.3

p.R361G

c.1081C>G

9 papers

NM_004329.3

p.R361*

c.1081C>T

5 papers

NM_004329.3

p.R361Q

c.1082G>A