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.N335K

c.1005T>G

Surrounding Variants

1 paper

NM_000020.3

p.N335K

c.1005T>A

1 paper

NM_000020.3

p.V336L

c.1006G>T

1 paper

NM_000020.3

p.V336E

c.1007T>A

1 paper

NM_000020.3

p.L337delFs

c.1010delT

2 papers

NM_000020.3

p.L337P

c.1010T>C

1 paper

NM_000020.3

p.S333R

c.999C>A

18 papers

NM_000020.3

p.S333I

c.998G>T

2 papers

NM_000020.3

p.S333G

c.997A>G

1 paper

NM_000020.3

p.S333C

c.997A>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.K332E

c.994A>G