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.R47R

c.141G>T

Surrounding Variants

6 papers

NM_000020.3

p.G48R

c.142G>A

3 papers

NM_000020.3

p.R47Q

c.140G>A

8 papers

NM_000020.3

p.R47P

c.140G>C

6 papers

NM_000020.3

p.G48R

c.142G>C

1 paper

NM_000020.3

p.R47insFs

c.139_140insCG

8 papers

NM_000020.3

p.G48_A49insFs

c.144_145insG

1 paper

NM_000020.3

p.R47fs

c.139_140fs

1 paper

NM_000020.3

p.R47G

c.139C>G

7 papers

NM_000020.3

p.A49delFs

c.145delG

1 paper

NM_000020.3

p.R47fs

c.139_140fs

12 papers

NM_000020.3

p.G48E

c.143G>A

1 paper

NM_000020.3

p.C46*

c.138C>A