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.G258Splc

c.773-3C>G

Surrounding Variants

2 papers

NM_000020.3

p.G258Splc

c.773-2A>G

2 papers

NM_000020.3

p.G258D

c.773G>A

1 paper

NM_000020.3

p.F259V

c.775T>G

3 papers

NM_000020.3

p.I260L

c.778A>C

1 paper

NM_000020.3

p.A261P

c.781G>C

1 paper

NM_000020.3

p.A261V

c.782C>T

1 paper

NM_000020.3

p.S262_D263delFs

c.785_789del5

1 paper

NM_000020.3

p.D263del1

c.787_789delGAC

1 paper

NM_000020.3

p.D263N

c.787G>A

1 paper

NM_000020.3

p.D263insFs

c.788dupA

2 papers

NM_000020.3

p.D263G

c.788A>G

1 paper

NM_000020.3

p.D263E

c.789C>A