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.T33T

c.99C>A

Surrounding Variants

1 paper

NM_000020.3

p.C34insFs

c.100dupT

1 paper

NM_000020.3

p.T33T

c.99C>T

1 paper

NM_000020.3

p.C34S

c.100T>A

3 papers

NM_000020.3

p.C34R

c.100T>C

6 papers

NM_000020.3

p.C34Y

c.101G>A

1 paper

NM_000020.3

p.C34S

c.101G>C

2 papers

NM_000020.3

p.C34*

c.102C>A

4 papers

NM_000020.3

p.V32E

c.95T>A

1 paper

NM_000020.3

p.V32A

c.95T>C

5 papers

NM_000020.3

p.V32G

c.95T>G

1 paper

NM_000020.3

p.C36R

c.106T>C

1 paper

NM_000020.3

p.C36_G43insFs

c.107_128dup22