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

3 papers

NM_000020.3

p.H87D

c.259C>G

Surrounding Variants

1 paper

NM_000020.3

p.N86K

c.258C>G

6 papers

NM_000020.3

p.Y88C

c.263A>G

1 paper

NM_000020.3

p.Y88delFs

c.264delC

1 paper

NM_000020.3

p.Y88*

c.264C>A

1 paper

NM_000020.3

p.Y88*

c.264C>G

1 paper

NM_000020.3

p.V85I

c.253G>A

1 paper

NM_000020.3

p.C89R

c.265T>C

1 paper

NM_000020.3

p.F84L

c.252C>A

1 paper

NM_000020.3

p.F84L

c.252C>G

3 papers

NM_000020.3

p.C89Y

c.266G>A

1 paper

NM_000020.3

p.C89S

c.266G>C

1 paper

NM_000020.3

p.C89C

c.267C>T