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.N420K

c.1260C>A

Surrounding Variants

1 paper

NM_004329.3

p.N420K

c.1260C>G

1 paper

NM_004329.3

p.H421Q

c.1263C>A

1 paper

NM_004329.3

p.H421Q

c.1263C>G

1 paper

NM_004329.3

p.K419E

c.1255A>G

1 paper

NM_004329.3

p.N418delFs

c.1252delA

2 papers

NM_004329.3

p.P424T

c.1270C>A

1 paper

NM_004329.3

p.L417V

c.1249C>G

1 paper

NM_004329.3

p.S416N

c.1247G>A

1 paper

NM_004329.3

p.S416fs

c.1246_1247fs

1 paper

NM_004329.3

p.Y425C

c.1274A>G

1 paper

NM_004329.3

p.Y425F

c.1274A>T

2 papers

NM_004329.3

p.E415D

c.1245A>C