Varaico: Literature-Extracted Genetic Variants

IKZF1

704 papers

RefSeq Summary

This gene encodes a transcription factor that belongs to the family of zinc-finger DNA-binding proteins associated with chromatin remodeling. The expression of this protein is restricted to the fetal ...

Pfam Domains

zf-C2H2aa 145–167UCSCZinc finger, C2H2 type

zf-C2H2aa 173–195UCSCZinc finger, C2H2 type

zf-C2H2aa 201–224UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

IKAROS family zinc finger 1

HGNC Previous Symbol

ZNFN1A1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006060.6

p.L216delFs

c.647_648delTA

Surrounding Variants

1 paper

NM_006060.6

p.L216*

c.647T>A

1 paper

NM_006060.6

p.S215S

c.645T>C

1 paper

NM_006060.6

p.L216*

c.647T>G

1 paper

NM_006060.6

p.S215F

c.644C>T

1 paper

NM_006060.6

p.E217K

c.649G>A

1 paper

NM_006060.6

p.S215A

c.643T>G

1 paper

NM_006060.6

p.E218delFs

c.652delG

1 paper

NM_006060.6

p.S214N

c.641G>A

1 paper

NM_006060.6

p.E218*

c.652G>T

3 papers

NM_006060.6

p.R213Q

c.638G>A

1 paper

NM_006060.6

p.H219fs

c.655_656fs

14 papers

NM_006060.6

p.R213*

c.637C>T