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

5 papers

NM_000020.3

p.G319R

c.955G>C

Surrounding Variants

3 papers

NM_000020.3

p.G319D

c.956G>A

1 paper

NM_000020.3

p.G319V

c.956G>T

1 paper

NM_000020.3

p.F318Y

c.953T>A

1 paper

NM_000020.3

p.T320_Q321insGC

c.958_962ins6

1 paper

NM_000020.3

p.Q321delFs

c.961delC

3 papers

NM_000020.3

p.I317T

c.950T>C

5 papers

NM_000020.3

p.Q321*

c.961C>T

1 paper

NM_000020.3

p.E316K

c.946G>A

1 paper

NM_000020.3

p.E316Q

c.946G>C

3 papers

NM_000020.3

p.G322D

c.965G>A

2 papers

NM_000020.3

p.K323_P324insFs

c.969_970insA

1 paper

NM_000020.3

p.V315E

c.944T>A