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.H280D

c.838C>G

Surrounding Variants

1 paper

NM_000020.3

p.H280N

c.838C>A

5 papers

NM_000020.3

p.H280R

c.839A>G

1 paper

NM_000020.3

p.H280delFs

c.840delC

1 paper

NM_000020.3

p.E281Q

c.841G>C

1 paper

NM_000020.3

p.E281*

c.841G>T

1 paper

NM_000020.3

p.H278insFs

c.834dupC

4 papers

NM_000020.3

p.T277K

c.830C>A

1 paper

NM_000020.3

p.T277R

c.830C>G

1 paper

NM_000020.3

p.T277M

c.830C>T

2 papers

NM_000020.3

p.I276_T277insFs

c.828_829insA

1 paper

NM_000020.3

p.I276I

c.828C>T

1 paper

NM_000020.3

p.G283V

c.848G>T