Varaico: Literature-Extracted Genetic Variants

ACVRL1

551 papers

RefSeq Summary

This gene encodes a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares with other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a gly...

Pfam Domains

TGF_beta_GSaa 173–200UCSCTransforming growth factor beta type I GS-motif

PK_Tyr_Ser-Thraa 202–489UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

activin A receptor like type 1

HGNC Previous Symbols

ACVRLK1; ORW2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000020.3

p.P324delFs

c.972delA

Surrounding Variants

2 papers

NM_000020.3

p.P324T

c.970C>A

1 paper

NM_000020.3

p.I326V

c.976A>G

2 papers

NM_000020.3

p.K323_P324insFs

c.969_970insA

3 papers

NM_000020.3

p.G322D

c.965G>A

1 paper

NM_000020.3

p.I326T

c.977T>C

5 papers

NM_000020.3

p.Q321*

c.961C>T

1 paper

NM_000020.3

p.Q321delFs

c.961delC

1 paper

NM_000020.3

p.H328N

c.982C>A

1 paper

NM_000020.3

p.H328D

c.982C>G

5 papers

NM_000020.3

p.H328Y

c.982C>T

2 papers

NM_000020.3

p.H328P

c.983A>C

1 paper

NM_000020.3

p.T320_Q321insGC

c.958_962ins6