Varaico: Literature-Extracted Genetic Variants

Gene:IKZF1
Variant:p.E221_R222insG

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 145–167UCSCZinc finger, C2H2 type
zf-C2H2aa 173–195UCSCZinc finger, C2H2 type
zf-C2H2aa 173–195UCSCZinc finger, C2H2 type
zf-C2H2aa 201–224UCSCZinc 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.E221_R222insG
c.661_665ins3
Surrounding Variants
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
1 paper
NM_006060.6
p.K220_E221ins4
c.658_662ins12
2 papers
NM_006060.6
p.R222C
c.664C>T
1 paper
NM_006060.6
p.K220insFs
c.658dupA
1 paper
NM_006060.6
p.H219_E221delFs
c.657_661del5
1 paper
NM_006060.6
p.H219fs
c.655_656fs
1 paper
NM_006060.6
p.C223R
c.667T>C
4 papers
NM_006060.6
p.H224fs
c.670_671fs
2 papers
NM_006060.6
p.H224Y
c.670C>T
1 paper
NM_006060.6
p.E218*
c.652G>T
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