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.T265A

c.793A>G

Surrounding Variants

2 papers

NM_004329.3

p.T265S

c.793A>T

1 paper

NM_004329.3

p.T265S

c.794C>G

1 paper

NM_004329.3

p.T265I

c.794C>T

1 paper

NM_004329.3

p.F264S

c.791T>C

1 paper

NM_004329.3

p.T266S

c.796A>T

1 paper

NM_004329.3

p.F264fs

c.790_791fs

1 paper

NM_004329.3

p.T266S

c.797C>G

2 papers

NM_004329.3

p.F264_T266del3

c.790_797del9

1 paper

NM_004329.3

p.V262I

c.784G>A

1 paper

NM_004329.3

p.K261R

c.782A>G

1 paper

NM_004329.3

p.V260A

c.779T>C

1 paper

NM_004329.3

p.V260G

c.779T>G