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.W472*

c.1415G>A

Surrounding Variants

1 paper

NM_000020.3

p.W472*

c.1416G>A

2 papers

NM_000020.3

p.C471*

c.1413C>A

1 paper

NM_000020.3

p.C471W

c.1413C>G

2 papers

NM_000020.3

p.C471Y

c.1412G>A

1 paper

NM_000020.3

p.C471F

c.1412G>T

1 paper

NM_000020.3

p.E470delFs

c.1410delG

1 paper

NM_000020.3

p.E470insFs

c.1409dupA

1 paper

NM_000020.3

p.E470*

c.1408G>T

1 paper

NM_000020.3

p.P476_S477del2

c.1426_1430del6

1 paper

NM_000020.3

p.P476L

c.1427C>T

3 papers

NM_000020.3

p.A478D

c.1433C>A

1 paper

NM_000020.3

p.Q466*

c.1396C>T