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.R369fs

c.1105_1106fs

Surrounding Variants

1 paper

NM_000020.3

p.P368L

c.1103C>T

2 papers

NM_000020.3

p.R369_V370delFs

c.1107_1108delAG

1 paper

NM_000020.3

p.P368_Y375delFs

c.1104_1125del22

1 paper

NM_000020.3

p.V370_I385del0

c.1110_1154del45

1 paper

NM_000020.3

p.P368_R369delFs

c.1102_1105del4

2 papers

NM_000020.3

p.V370A

c.1109T>C

15 papers

NM_000020.3

p.G371insFs

c.1112dupG

1 paper

NM_000020.3

p.G371S

c.1111G>A

1 paper

NM_000020.3

p.G371fs

c.1111_1112fs

1 paper

NM_000020.3

p.N366_N367insFs

c.1098_1099insT

1 paper

NM_000020.3

p.G371V

c.1112G>T

3 papers

NM_000020.3

p.G371_T372insFs

c.1113_1114insG