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.D360_N366insFs

c.1080_1098dup19

Surrounding Variants

1 paper

NM_000020.3

p.D360fs

c.1078_1079fs

1 paper

NM_000020.3

p.S359S

c.1077C>T

1 paper

NM_000020.3

p.Y361Y

c.1083C>T

2 papers

NM_000020.3

p.G358delFs

c.1073delG

1 paper

NM_000020.3

p.Q357fs

c.1069_1070fs

3 papers

NM_000020.3

p.Q357*

c.1069C>T

2 papers

NM_000020.3

p.H355P

c.1064A>C

1 paper

NM_000020.3

p.H355Y

c.1063C>T

1 paper

NM_000020.3

p.N366_K373delFs

c.1097_1119del23

1 paper

NM_000020.3

p.M354I

c.1062G>A

1 paper

NM_000020.3

p.M354I

c.1062G>C

1 paper

NM_000020.3

p.M354I

c.1062G>T