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.G207C

c.619G>T

Surrounding Variants

1 paper

NM_006060.6

p.G207D

c.620G>A

4 papers

NM_006060.6

p.R208*

c.622C>T

1 paper

NM_006060.6

p.C206R

c.616T>C

1 paper

NM_006060.6

p.R208Q

c.623G>A

1 paper

NM_006060.6

p.Y205D

c.613T>G

1 paper

NM_006060.6

p.Y210delFs

c.629delA

18 papers

NM_006060.6

p.Y210C

c.629A>G

1 paper

NM_006060.6

p.C203F

c.608G>T

1 paper

NM_006060.6

p.K211insFs

c.631_632insG

2 papers

NM_006060.6

p.K211fs

c.631_632fs

1 paper

NM_006060.6

p.K211_E221delins

c.631_662delinsGG

1 paper

NM_006060.6

p.K211insFs

c.632_633insG