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.L302R

c.905T>G

Surrounding Variants

1 paper

NM_000020.3

p.A303_C308del0

c.907_924del18

1 paper

NM_000020.3

p.R301K

c.902G>A

1 paper

NM_000020.3

p.R301_A307del7

c.901_920del21

3 papers

NM_000020.3

p.L300P

c.899T>C

1 paper

NM_000020.3

p.S305delFs

c.913delT

1 paper

NM_000020.3

p.S305T

c.913T>A

3 papers

NM_000020.3

p.S305P

c.913T>C

1 paper

NM_000020.3

p.S305fs

c.913_914fs

2 papers

NM_000020.3

p.S305F

c.914C>T

2 papers

NM_000020.3

p.A307_G309insFs

c.921_927dup7

1 paper

NM_000020.3

p.S305S

c.915C>T

1 paper

NM_000020.3

p.A306_C308delFs

c.916_923del8