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.H97_N98del0

c.289_294del6

Surrounding Variants

4 papers

NM_000020.3

p.C95R

c.283T>C

11 papers

NM_000020.3

p.N96D

c.286A>G

2 papers

NM_000020.3

p.N96S

c.287A>G

1 paper

NM_000020.3

p.N96N

c.288C>T

1 paper

NM_000020.3

p.N98del1

c.292_293delAAC

3 papers

NM_000020.3

p.H93Y

c.277C>T

1 paper

NM_000020.3

p.N98T

c.293A>C

7 papers

NM_000020.3

p.N98S

c.293A>G

1 paper

NM_000020.3

p.H93delFs

c.277delC

1 paper

NM_000020.3

p.V99M

c.295G>A

2 papers

NM_000020.3

p.D91Y

c.271G>T

2 papers

NM_000020.3

p.C90*

c.270C>A