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.S168A

c.502T>G

Surrounding Variants

1 paper

NM_006060.6

p.H167Q

c.501T>A

1 paper

NM_006060.6

p.H167Q

c.501T>G

1 paper

NM_006060.6

p.H167ins1

c.500_501insACT

17 papers

NM_006060.6

p.H167R

c.500A>G

4 papers

NM_006060.6

p.H167Y

c.499C>T

1 paper

NM_006060.6

p.G169E

c.506G>A

1 paper

NM_006060.6

p.L166V

c.496C>G

2 papers

NM_006060.6

p.E170K

c.508G>A

1 paper

NM_006060.6

p.K165R

c.494A>G

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.K171fs

c.511_512fs