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.K486M

c.1457A>T

Surrounding Variants

1 paper

NM_000020.3

p.T488_E497del10

c.1462_1490del30

1 paper

NM_000020.3

p.K487_T488del1

c.1460_1462delAGA

5 papers

NM_000020.3

p.K487T

c.1460A>C

1 paper

NM_000020.3

p.I485F

c.1453A>T

1 paper

NM_000020.3

p.R484R

c.1452G>A

1 paper

NM_000020.3

p.R484_I485insFs

c.1452_1453insA

32 papers

NM_000020.3

p.R484Q

c.1451G>A

1 paper

NM_000020.3

p.R484insFs

c.1451_1452insA

4 papers

NM_000020.3

p.R484L

c.1451G>T

2 papers

NM_000020.3

p.R484insFs

c.1450_1451insG

5 papers

NM_000020.3

p.R484G

c.1450C>G

36 papers

NM_000020.3

p.R484W

c.1450C>T