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.K42E

c.124A>G

Surrounding Variants

1 paper

NM_000020.3

p.G43delFs

c.129delG

1 paper

NM_000020.3

p.C41Y

c.122G>A

1 paper

NM_000020.3

p.C41F

c.122G>T

4 papers

NM_000020.3

p.C41R

c.121T>C

1 paper

NM_000020.3

p.C41G

c.121T>G

1 paper

NM_000020.3

p.P44_R47delFs

c.132_139del8

1 paper

NM_000020.3

p.H40Y

c.118C>T

1 paper

NM_000020.3

p.P44_C46delFs

c.131_137del7

1 paper

NM_000020.3

p.P44_T45delFs

c.132_133delTA

4 papers

NM_000020.3

p.T45fs

c.133_134fs

1 paper

NM_000020.3

p.T45I

c.134C>T

1 paper

NM_000020.3

p.P39_H40insFs

c.115_118dup4