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

4 papers

NM_006060.6

p.H224fs

c.670_671fs

Surrounding Variants

2 papers

NM_006060.6

p.H224Y

c.670C>T

1 paper

NM_006060.6

p.N225Y

c.673A>T

1 paper

NM_006060.6

p.C223R

c.667T>C

1 paper

NM_006060.6

p.N225insFs

c.674_675ins16

1 paper

NM_006060.6

p.N225K

c.675C>A

2 papers

NM_006060.6

p.R222C

c.664C>T

1 paper

NM_006060.6

p.L227_L236del10

c.679_707del30

1 paper

NM_006060.6

p.E221_R222insG

c.661_665ins3

1 paper

NM_006060.6

p.L227L

c.679T>C

2 papers

NM_006060.6

p.K220R

c.659A>G

1 paper

NM_006060.6

p.K220_E221insC

c.658_662ins3

1 paper

NM_006060.6

p.K220_E221insCC

c.658_662ins6