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

42 papers

NM_004329.3

p.P2T

c.4C>A

Surrounding Variants

1 paper

NM_004329.3

p.P2S

c.4C>T

2 papers

NM_004329.3

p.P2L

c.5C>T

1 paper

NM_004329.3

p.M1I

c.3G>A

1 paper

NM_004329.3

p.M1I

c.3G>C

1 paper

NM_004329.3

p.M1_P2insFs

c.3_4insA

1 paper

NM_004329.3

p.M1I

c.3G>T

2 papers

NM_004329.3

p.M1_P2delins

c.3_4delinsTA

1 paper

NM_004329.3

p.M1K

c.2T>A

2 papers

NM_004329.3

p.M1T

c.2T>C

1 paper

NM_004329.3

p.M1R

c.2T>G

1 paper

NM_004329.3

p.M1insFs

c.2_3ins4

3 papers

NM_004329.3

p.M1L

c.1A>C