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.K498K

c.1494G>A

Surrounding Variants

2 papers

NM_000020.3

p.Q503H

c.1509A>C

1 paper

NM_000020.3

p.S493_N494insFs

c.1479_1480insG

1 paper

NM_000020.3

p.S493insFs

c.1477dupA

2 papers

NM_000020.3

p.I492N

c.1475T>A

1 paper

NM_000020.3

p.I492V

c.1474A>G

1 paper

NM_000020.3

p.K491_I492insFs

c.1473_1474insT

3 papers

NM_000020.3

p.Q490_K491insFs

c.1470_1471insA

12 papers

NM_000020.3

p.Q490*

c.1468C>T

5 papers

NM_000020.3

p.K487T

c.1460A>C

1 paper

NM_000020.3

p.T488_E497del10

c.1462_1490del30

1 paper

NM_000020.3

p.K486M

c.1457A>T

1 paper

NM_000020.3

p.K487_T488del1

c.1460_1462delAGA