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

6 papers

NM_000020.3

p.P26L

c.77C>T

Surrounding Variants

1 paper

NM_000020.3

p.P26insFs

c.77_78insT

1 paper

NM_000020.3

p.P26S

c.76C>T

1 paper

NM_000020.3

p.S27insFs

c.81dupT

2 papers

NM_000020.3

p.R28fs

c.82_83fs

3 papers

NM_000020.3

p.G29delFs

c.86delG

1 paper

NM_000020.3

p.P23S

c.67C>T

1 paper

NM_000020.3

p.G29G

c.87C>T

1 paper

NM_000020.3

p.P23fs

c.67_68fs

1 paper

NM_000020.3

p.D22E

c.66C>A

1 paper

NM_000020.3

p.D22E

c.66C>G

5 papers

NM_000020.3

p.P30S

c.88C>T

1 paper

NM_000020.3

p.P30_C34delFs

c.90_102del13