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

17 papers

NM_006060.6

p.R162L

c.485G>T

Surrounding Variants

22 papers

NM_006060.6

p.R162Q

c.485G>A

6 papers

NM_006060.6

p.R162P

c.485G>C

1 paper

NM_006060.6

p.R162fs

c.484_485fs

19 papers

NM_006060.6

p.R162W

c.484C>T

7 papers

NM_006060.6

p.H163Y

c.487C>T

2 papers

NM_006060.6

p.H163P

c.488A>C

1 paper

NM_006060.6

p.H163L

c.488A>T

1 paper

NM_006060.6

p.L161H

c.482T>A

1 paper

NM_006060.6

p.L161R

c.482T>G

1 paper

NM_006060.6

p.H163Q

c.489C>A

1 paper

NM_006060.6

p.L161fs

c.481_482fs

1 paper

NM_006060.6

p.H163Q

c.489C>G