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.K171fs

c.511_512fs

Surrounding Variants

1 paper

NM_006060.6

p.K171_P172Fs

c.512_514delinsTGAGFs

3 papers

NM_006060.6

p.E170D

c.510G>C

3 papers

NM_006060.6

p.E170D

c.510G>T

1 paper

NM_006060.6

p.K171N

c.513G>C

1 paper

NM_006060.6

p.K171N

c.513G>T

1 paper

NM_006060.6

p.P172_F173ins4

c.514_518ins12

2 papers

NM_006060.6

p.E170K

c.508G>A

1 paper

NM_006060.6

p.F173_L177del5

c.517_530del15

1 paper

NM_006060.6

p.G169E

c.506G>A

1 paper

NM_006060.6

p.F173_K174ins16

c.517_521ins48

1 paper

NM_006060.6

p.F173S

c.518T>C

1 paper

NM_006060.6

p.S168A

c.502T>G