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.V402L

c.1204G>T

Surrounding Variants

1 paper

NM_004329.3

p.V402L

c.1204G>C

1 paper

NM_004329.3

p.V402delFs

c.1206delG

1 paper

NM_004329.3

p.R401K

c.1202G>A

1 paper

NM_004329.3

p.R401M

c.1202G>T

1 paper

NM_004329.3

p.G403_P410del8

c.1207_1229del24

1 paper

NM_004329.3

p.G403delFs

c.1209delC

1 paper

NM_004329.3

p.T400N

c.1199C>A

1 paper

NM_004329.3

p.T400A

c.1198A>G

1 paper

NM_004329.3

p.T400_R401del2

c.1198_1202del6

1 paper

NM_004329.3

p.K405insFs

c.1214_1215insT

1 paper

NM_004329.3

p.K405R

c.1214A>G

3 papers

NM_004329.3

p.K405N

c.1215A>C