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.N341I

c.1022A>T

Surrounding Variants

1 paper

NM_000020.3

p.N341K

c.1023C>A

2 papers

NM_000020.3

p.N341K

c.1023C>G

2 papers

NM_000020.3

p.L342P

c.1025T>C

2 papers

NM_000020.3

p.Q343*

c.1027C>T

10 papers

NM_000020.3

p.C344R

c.1030T>C

15 papers

NM_000020.3

p.C344Y

c.1031G>A

5 papers

NM_000020.3

p.C344F

c.1031G>T

1 paper

NM_000020.3

p.V338D

c.1013T>A

1 paper

NM_000020.3

p.V338G

c.1013T>G

1 paper

NM_000020.3

p.C344W

c.1032T>G

2 papers

NM_000020.3

p.L337P

c.1010T>C

1 paper

NM_000020.3

p.L337delFs

c.1010delT