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.L161R

c.482T>G

Surrounding Variants

1 paper

NM_006060.6

p.L161H

c.482T>A

1 paper

NM_006060.6

p.L161fs

c.481_482fs

1 paper

NM_006060.6

p.L161F

c.481C>T

1 paper

NM_006060.6

p.R162fs

c.484_485fs

19 papers

NM_006060.6

p.R162W

c.484C>T

22 papers

NM_006060.6

p.R162Q

c.485G>A

6 papers

NM_006060.6

p.R162P

c.485G>C

17 papers

NM_006060.6

p.R162L

c.485G>T

1 paper

NM_006060.6

p.L160Q

c.479T>A

1 paper

NM_006060.6

p.L160P

c.479T>C

1 paper

NM_006060.6

p.L161_R162insFs

c.481_485dup5

1 paper

NM_006060.6

p.L160V

c.478C>G