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.L298L

c.892C>T

Surrounding Variants

5 papers

NM_000020.3

p.H297R

c.890A>G

1 paper

NM_000020.3

p.L298L

c.894G>T

1 paper

NM_000020.3

p.H297fs

c.889_890fs

2 papers

NM_000020.3

p.H297Y

c.889C>T

1 paper

NM_000020.3

p.P296P

c.888C>G

1 paper

NM_000020.3

p.P296fs

c.886_887fs

3 papers

NM_000020.3

p.H297delFs

c.889delC

3 papers

NM_000020.3

p.L300P

c.899T>C

1 paper

NM_000020.3

p.R301_A307del7

c.901_920del21

1 paper

NM_000020.3

p.L294L

c.882G>A

1 paper

NM_000020.3

p.R301K

c.902G>A

1 paper

NM_000020.3

p.L294R

c.881T>G