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.I122delFs

c.365_366delTA

Surrounding Variants

1 paper

NM_004329.3

p.I122V

c.364A>G

1 paper

NM_004329.3

p.E123delFs

c.367delG

2 papers

NM_004329.3

p.R120Q

c.359G>A

1 paper

NM_004329.3

p.E123K

c.367G>A

1 paper

NM_004329.3

p.R120P

c.359G>C

2 papers

NM_004329.3

p.E123fs

c.367_368fs

1 paper

NM_004329.3

p.E123*

c.367G>T

2 papers

NM_004329.3

p.R120W

c.358C>T

2 papers

NM_004329.3

p.R119H

c.356G>A

11 papers

NM_004329.3

p.C124R

c.370T>C

6 papers

NM_004329.3

p.R119C

c.355C>T

4 papers

NM_004329.3

p.C124Y

c.371G>A