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.A400V

c.1199C>T

Surrounding Variants

5 papers

NM_000020.3

p.A400D

c.1199C>A

3 papers

NM_000020.3

p.W399S

c.1196G>C

5 papers

NM_000020.3

p.W399L

c.1196G>T

1 paper

NM_000020.3

p.W399R

c.1195T>A

2 papers

NM_000020.3

p.W399R

c.1195T>C

1 paper

NM_000020.3

p.W399delFs

c.1195delT

3 papers

NM_000020.3

p.G402S

c.1204G>A

1 paper

NM_000020.3

p.G402D

c.1205G>A

1 paper

NM_000020.3

p.G402delFs

c.1206delC

7 papers

NM_000020.3

p.I398N

c.1193T>A

2 papers

NM_000020.3

p.L403M

c.1207C>A

3 papers

NM_000020.3

p.D397G

c.1190A>G