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.Q466*

c.1396C>T

Surrounding Variants

1 paper

NM_000020.3

p.L464_A465insFs

c.1392_1393insC

1 paper

NM_000020.3

p.G463D

c.1388G>A

2 papers

NM_000020.3

p.L464delFs

c.1390delC

1 paper

NM_000020.3

p.G463fs

c.1387_1388fs

4 papers

NM_000020.3

p.G463delFs

c.1388delG

2 papers

NM_000020.3

p.S462*

c.1385C>A

2 papers

NM_000020.3

p.S462*

c.1385C>G

1 paper

NM_000020.3

p.E470insFs

c.1409dupA

1 paper

NM_000020.3

p.E470*

c.1408G>T

1 paper

NM_000020.3

p.E470delFs

c.1410delG

1 paper

NM_000020.3

p.L461_S462insG

c.1381_1385ins3

2 papers

NM_000020.3

p.C471Y

c.1412G>A