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

1–12 of 940 variants

43 papers

NM_000020.3

p.R374W

c.1120C>T

42 papers

NM_000020.3

p.R411Q

c.1232G>A

37 papers

NM_000020.3

p.R411W

c.1231C>T

36 papers

NM_000020.3

p.R484W

c.1450C>T

32 papers

NM_000020.3

p.R484Q

c.1451G>A

22 papers

NM_000020.3

p.R67Q

c.200G>A

22 papers

NM_000020.3

p.R479*

c.1435C>T

21 papers

NM_000020.3

p.R67W

c.199C>T

18 papers

NM_000020.3

p.S333I

c.998G>T

17 papers

NM_000020.3

p.R374Q

c.1121G>A

17 papers

NM_000020.3

p.A482V

c.1445C>T

16 papers

NM_000020.3

p.W50C

c.150G>C