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

2 papers

NM_000020.3

p.A307E

c.920C>A

Surrounding Variants

1 paper

NM_000020.3

p.A306E

c.917C>A

7 papers

NM_000020.3

p.C308*

c.924C>A

6 papers

NM_000020.3

p.A306P

c.916G>C

2 papers

NM_000020.3

p.A307_G309insFs

c.921_927dup7

1 paper

NM_000020.3

p.S305S

c.915C>T

1 paper

NM_000020.3

p.A306_C308delFs

c.916_923del8

6 papers

NM_000020.3

p.G309S

c.925G>A

2 papers

NM_000020.3

p.G309C

c.925G>T

2 papers

NM_000020.3

p.S305F

c.914C>T

1 paper

NM_000020.3

p.G309D

c.926G>A

1 paper

NM_000020.3

p.G309A

c.926G>C

2 papers

NM_000020.3

p.G309V

c.926G>T