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

4 papers

NM_000020.3

p.L285P

c.854T>C

Surrounding Variants

1 paper

NM_000020.3

p.Y286insFs

c.856dupT

6 papers

NM_000020.3

p.L285F

c.853C>T

3 papers

NM_000020.3

p.S284F

c.851C>T

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.L285insFs

c.853dupC

1 paper

NM_000020.3

p.S284fs

c.850_851fs

1 paper

NM_000020.3

p.G283V

c.848G>T

1 paper

NM_000020.3

p.L289_L294del6

c.865_881del18

2 papers

NM_000020.3

p.L289insFs

c.865_866insT

6 papers

NM_000020.3

p.L289P

c.866T>C

1 paper

NM_000020.3

p.E281Q

c.841G>C