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.E104V

c.311A>T

Surrounding Variants

1 paper

NM_000020.3

p.E104_A105delFs

c.312_313delGG

1 paper

NM_000020.3

p.L103L

c.309G>A

3 papers

NM_000020.3

p.A105Splc

c.313+1G>A

2 papers

NM_000020.3

p.A105Splc

c.313+1G>C

1 paper

NM_000020.3

p.V102M

c.304G>A

1 paper

NM_000020.3

p.A105Splc

c.313+5G>C

1 paper

NM_000020.3

p.L101M

c.301C>A

1 paper

NM_000020.3

p.L101_L103delFs

c.301_307del7

7 papers

NM_000020.3

p.A105Splc

c.313+11C>T

1 paper

NM_000020.3

p.V99M

c.295G>A

1 paper

NM_000020.3

p.N98T

c.293A>C

7 papers

NM_000020.3

p.N98S

c.293A>G