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.Q64delFs

c.191delA

Surrounding Variants

1 paper

NM_000020.3

p.Q64fs

c.190_191fs

1 paper

NM_000020.3

p.Q64*

c.190C>T

1 paper

NM_000020.3

p.P63P

c.189C>A

1 paper

NM_000020.3

p.P63P

c.189C>T

1 paper

NM_000020.3

p.Q64delFs

c.190delC

1 paper

NM_000020.3

p.H66Y

c.196C>T

5 papers

NM_000020.3

p.H66P

c.197A>C

1 paper

NM_000020.3

p.R61R

c.183G>A

1 paper

NM_000020.3

p.R61fs

c.181_182fs

2 papers

NM_000020.3

p.R61delFs

c.183delG

1 paper

NM_000020.3

p.R67G

c.199C>G

21 papers

NM_000020.3

p.R67W

c.199C>T