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.S229R

c.685A>C

Surrounding Variants

1 paper

NM_006060.6

p.S229N

c.686G>A

2 papers

NM_006060.6

p.G231C

c.691G>T

1 paper

NM_006060.6

p.L227L

c.679T>C

1 paper

NM_006060.6

p.L227_L236del10

c.679_707del30

1 paper

NM_006060.6

p.L232insFs

c.694_695insC

1 paper

NM_006060.6

p.L232insFs

c.694_695insA

1 paper

NM_006060.6

p.L232_P233insAG

c.694_698ins6

1 paper

NM_006060.6

p.N225K

c.675C>A

1 paper

NM_006060.6

p.L232H

c.695T>A

1 paper

NM_006060.6

p.L232R

c.695T>G

1 paper

NM_006060.6

p.L232_T235delFs

c.696_705del10

1 paper

NM_006060.6

p.N225insFs

c.674_675ins16