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.Q239_V240ins0

c.716_718dupAAG

Surrounding Variants

11 papers

NM_004329.3

p.Q239*

c.715C>T

1 paper

NM_004329.3

p.Q239delFs

c.717delA

1 paper

NM_004329.3

p.Q239H

c.717A>C

2 papers

NM_004329.3

p.Q239H

c.717A>T

8 papers

NM_004329.3

p.R238Q

c.713G>A

3 papers

NM_004329.3

p.R238G

c.712C>G

2 papers

NM_004329.3

p.R238W

c.712C>T

1 paper

NM_004329.3

p.V240V

c.720T>G

1 paper

NM_004329.3

p.G241_R244delFs

c.723_730del8

1 paper

NM_004329.3

p.M236T

c.707T>C

1 paper

NM_004329.3

p.M236_K242del0

c.707_724del18

1 paper

NM_004329.3

p.Q235_M236insG

c.703_707ins3