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.L76L

c.228C>T

Surrounding Variants

1 paper

NM_000020.3

p.C77S

c.229T>A

1 paper

NM_000020.3

p.C77R

c.229T>C

4 papers

NM_000020.3

p.C77Y

c.230G>A

1 paper

NM_000020.3

p.C77S

c.230G>C

1 paper

NM_000020.3

p.C77F

c.230G>T

12 papers

NM_000020.3

p.C77W

c.231C>G

1 paper

NM_000020.3

p.C77C

c.231C>T

1 paper

NM_000020.3

p.R78delFs

c.232delA

1 paper

NM_000020.3

p.R78insFs

c.234dupG

1 paper

NM_000020.3

p.R78fs

c.232_233fs

1 paper

NM_000020.3

p.E75A

c.224A>C

1 paper

NM_000020.3

p.R78G

c.232A>G