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

6 papers

NM_000020.3

p.L289P

c.866T>C

Surrounding Variants

2 papers

NM_000020.3

p.L289insFs

c.865_866insT

1 paper

NM_000020.3

p.Q290delFs

c.868delC

1 paper

NM_000020.3

p.L289_L294del6

c.865_881del18

1 paper

NM_000020.3

p.Q292delFs

c.874delC

6 papers

NM_000020.3

p.Y286*

c.858C>A

5 papers

NM_000020.3

p.Y286*

c.858C>G

1 paper

NM_000020.3

p.Q292fs

c.874_875fs

2 papers

NM_000020.3

p.Q292P

c.875A>C

2 papers

NM_000020.3

p.Q292R

c.875A>G

1 paper

NM_000020.3

p.T293insFs

c.878dupC

1 paper

NM_000020.3

p.Y286insFs

c.856dupT

4 papers

NM_000020.3

p.L285P

c.854T>C