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

4 papers

NM_000020.3

p.G70R

c.208G>C

Surrounding Variants

3 papers

NM_000020.3

p.G70R

c.208G>A

1 paper

NM_000020.3

p.C69*

c.207C>A

4 papers

NM_000020.3

p.C69C

c.207C>T

1 paper

NM_000020.3

p.G70E

c.209G>A

5 papers

NM_000020.3

p.C69Y

c.206G>A

1 paper

NM_000020.3

p.C69F

c.206G>T

4 papers

NM_000020.3

p.C69R

c.205T>C

1 paper

NM_000020.3

p.C69insFs

c.205_206insG

1 paper

NM_000020.3

p.G68G

c.204C>A

1 paper

NM_000020.3

p.G68_C69insFs

c.204_205insG

1 paper

NM_000020.3

p.N71K

c.213C>A

1 paper

NM_000020.3

p.N71N

c.213C>T