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.R374R

c.1122G>T

Surrounding Variants

17 papers

NM_000020.3

p.R374Q

c.1121G>A

1 paper

NM_000020.3

p.Y375_M376insFs

c.1125_1126ins4

3 papers

NM_000020.3

p.Y375H

c.1123T>C

3 papers

NM_000020.3

p.Y375C

c.1124A>G

43 papers

NM_000020.3

p.R374W

c.1120C>T

1 paper

NM_000020.3

p.R374_Y375delFs

c.1120_1123del4

1 paper

NM_000020.3

p.M376insFs

c.1126_1127ins4

7 papers

NM_000020.3

p.M376V

c.1126A>G

1 paper

NM_000020.3

p.K373R

c.1118A>G

1 paper

NM_000020.3

p.K373fs

c.1117_1118fs

2 papers

NM_000020.3

p.M376K

c.1127T>A

2 papers

NM_000020.3

p.M376T

c.1127T>C