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.F84L

c.250T>C

Surrounding Variants

1 paper

NM_000020.3

p.F84_V85insFs

c.252_253insC

1 paper

NM_000020.3

p.E83G

c.248A>G

1 paper

NM_000020.3

p.F84L

c.252C>A

1 paper

NM_000020.3

p.F84L

c.252C>G

1 paper

NM_000020.3

p.V85I

c.253G>A

2 papers

NM_000020.3

p.T82P

c.244A>C

1 paper

NM_000020.3

p.T82delFs

c.246delC

1 paper

NM_000020.3

p.N86K

c.258C>G

3 papers

NM_000020.3

p.H87D

c.259C>G

1 paper

NM_000020.3

p.T82del1

c.244_245delACC

1 paper

NM_000020.3

p.R80insFs

c.238_239insG

6 papers

NM_000020.3

p.Y88C

c.263A>G