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

2 papers

NM_000020.3

p.S38C

c.112A>T

Surrounding Variants

1 paper

NM_000020.3

p.P39_H40insFs

c.115_118dup4

1 paper

NM_000020.3

p.E37delFs

c.111delG

5 papers

NM_000020.3

p.C36Y

c.107G>A

1 paper

NM_000020.3

p.C36insFs

c.108dupT

1 paper

NM_000020.3

p.H40Y

c.118C>T

1 paper

NM_000020.3

p.C36R

c.106T>C

1 paper

NM_000020.3

p.C36_G43insFs

c.107_128dup22

4 papers

NM_000020.3

p.C41R

c.121T>C

1 paper

NM_000020.3

p.C41G

c.121T>G

2 papers

NM_000020.3

p.C34*

c.102C>A

1 paper

NM_000020.3

p.C41Y

c.122G>A

1 paper

NM_000020.3

p.C41F

c.122G>T