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.S205P

c.613T>C

Surrounding Variants

1 paper

NM_004329.3

p.S205fs

c.613_614fs

1 paper

NM_004329.3

p.V202V

c.606T>C

1 paper

NM_004329.3

p.D208N

c.622G>A

1 paper

NM_004329.3

p.D208fs

c.622_623fs

1 paper

NM_004329.3

p.V202F

c.604G>T

1 paper

NM_004329.3

p.L209fs

c.625_626fs

1 paper

NM_004329.3

p.L209insFs

c.625_626insTG

1 paper

NM_004329.3

p.P201S

c.601C>T

1 paper

NM_004329.3

p.L209fs

c.625_626fs

1 paper

NM_004329.3

p.I200F

c.598A>T

1 paper

NM_004329.3

p.I210T

c.629T>C

1 paper

NM_004329.3

p.D211N

c.631G>A