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

15 papers

NM_004329.3

p.E415K

c.1243G>A

Surrounding Variants

1 paper

NM_004329.3

p.E415insFs

c.1243_1244insAA

2 papers

NM_004329.3

p.E415_S416delFs

c.1245_1248del4

1 paper

NM_004329.3

p.D414D

c.1242C>T

2 papers

NM_004329.3

p.E415D

c.1245A>C

2 papers

NM_004329.3

p.E415D

c.1245A>T

1 paper

NM_004329.3

p.S416fs

c.1246_1247fs

1 paper

NM_004329.3

p.S416N

c.1247G>A

1 paper

NM_004329.3

p.L413insFs

c.1238_1239insA

1 paper

NM_004329.3

p.L417V

c.1249C>G

1 paper

NM_004329.3

p.V412V

c.1236G>A

1 paper

NM_004329.3

p.L413_S416del4

c.1237_1247del12

1 paper

NM_004329.3

p.N418delFs

c.1252delA