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.C182R

c.544T>C

Surrounding Variants

1 paper

NM_006060.6

p.C182F

c.545G>T

1 paper

NM_006060.6

p.C182*

c.546C>A

1 paper

NM_006060.6

p.A181V

c.542C>T

9 papers

NM_006060.6

p.R183C

c.547C>T

14 papers

NM_006060.6

p.R183H

c.548G>A

2 papers

NM_006060.6

p.Y180C

c.539A>G

1 paper

NM_006060.6

p.R183R

c.549C>T

1 paper

NM_006060.6

p.R184_R185insAA

c.550_554ins6

7 papers

NM_006060.6

p.R184W

c.550C>T

1 paper

NM_006060.6

p.Y180N

c.538T>A

16 papers

NM_006060.6

p.R184Q

c.551G>A

1 paper

NM_006060.6

p.Y180insFs

c.538_539ins5