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.R57Q

c.170G>A

Surrounding Variants

1 paper

NM_000020.3

p.R57W

c.169C>T

1 paper

NM_000020.3

p.E58K

c.172G>A

2 papers

NM_000020.3

p.E58*

c.172G>T

1 paper

NM_000020.3

p.R57_G60del4

c.169_179del12

1 paper

NM_000020.3

p.E59V

c.176A>T

1 paper

NM_000020.3

p.L55M

c.163C>A

1 paper

NM_000020.3

p.G60W

c.178G>T

1 paper

NM_000020.3

p.V54M

c.160G>A

1 paper

NM_000020.3

p.G60G

c.180G>A

1 paper

NM_000020.3

p.R61fs

c.181_182fs

2 papers

NM_000020.3

p.R61delFs

c.183delG

1 paper

NM_000020.3

p.V53_L55delFs

c.159_165del7