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

3 papers

NM_000020.3

p.W50*

c.149G>A

Surrounding Variants

3 papers

NM_000020.3

p.W50*

c.150G>A

16 papers

NM_000020.3

p.W50C

c.150G>C

16 papers

NM_000020.3

p.W50C

c.150G>T

3 papers

NM_000020.3

p.W50G

c.148T>G

2 papers

NM_000020.3

p.A49_W50insFs

c.147_148insT

15 papers

NM_000020.3

p.C51Y

c.152G>A

7 papers

NM_000020.3

p.A49P

c.145G>C

2 papers

NM_000020.3

p.A49fs

c.145_146fs

1 paper

NM_000020.3

p.A49S

c.145G>T

1 paper

NM_000020.3

p.A49delFs

c.147delC

1 paper

NM_000020.3

p.T52P

c.154A>C

5 papers

NM_000020.3

p.T52A

c.154A>G