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.E276_I277insFs

c.828_829insA

Surrounding Variants

1 paper

NM_004329.3

p.E276*

c.826G>T

1 paper

NM_004329.3

p.E276fs

c.826_827fs

2 papers

NM_004329.3

p.E276A

c.827A>C

1 paper

NM_004329.3

p.E276delFs

c.826_827delGA

1 paper

NM_004329.3

p.I277N

c.830T>A

1 paper

NM_004329.3

p.I277M

c.831C>G

1 paper

NM_004329.3

p.Y278fs

c.832_833fs

1 paper

NM_004329.3

p.Y278*

c.834C>A

1 paper

NM_004329.3

p.Y278*

c.834C>G

1 paper

NM_004329.3

p.Y278Y

c.834C>T

2 papers

NM_004329.3

p.R273Q

c.818G>A

12 papers

NM_004329.3

p.R273*

c.817C>T