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.E348D

c.1044A>C

Surrounding Variants

1 paper

NM_004329.3

p.E348D

c.1044A>T

1 paper

NM_004329.3

p.I349delFs

c.1046delT

1 paper

NM_004329.3

p.Y350fs

c.1048_1049fs

1 paper

NM_004329.3

p.T347A

c.1039A>G

1 paper

NM_004329.3

p.Y350F

c.1049A>T

1 paper

NM_004329.3

p.Y350*

c.1050T>A

1 paper

NM_004329.3

p.H346R

c.1037A>G

1 paper

NM_004329.3

p.G351S

c.1051G>A

1 paper

NM_004329.3

p.H346Y

c.1036C>T

1 paper

NM_004329.3

p.L345V

c.1033C>G

1 paper

NM_004329.3

p.H344Q

c.1032C>G

2 papers

NM_004329.3

p.Q353*

c.1057C>T