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.A335Fs

c.1003delinsGAFs

Surrounding Variants

2 papers

NM_004329.3

p.L334S

c.1001T>C

1 paper

NM_004329.3

p.L334M

c.1000T>A

1 paper

NM_004329.3

p.Y336F

c.1007A>T

1 paper

NM_004329.3

p.K333Q

c.997A>C

1 paper

NM_004329.3

p.S337A

c.1009T>G

3 papers

NM_004329.3

p.S337*

c.1010C>A

3 papers

NM_004329.3

p.S337*

c.1010C>G

1 paper

NM_004329.3

p.S337L

c.1010C>T

3 papers

NM_004329.3

p.L332P

c.995T>C

1 paper

NM_004329.3

p.A338P

c.1012G>C

10 papers

NM_004329.3

p.A338D

c.1013C>A

1 paper

NM_004329.3

p.L331V

c.991C>G