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.H201R

c.602A>G

Surrounding Variants

1 paper

NM_006060.6

p.H201Y

c.601C>T

1 paper

NM_006060.6

p.P200Fs

c.599delinsGTFs

1 paper

NM_006060.6

p.P200fs

c.598_599fs

1 paper

NM_006060.6

p.C203F

c.608G>T

1 paper

NM_006060.6

p.K199del1

c.595_596delAAA

1 paper

NM_006060.6

p.G198D

c.593G>A

1 paper

NM_006060.6

p.G198S

c.592G>A

1 paper

NM_006060.6

p.Y205D

c.613T>G

1 paper

NM_006060.6

p.V197Splc

c.590-1G>A

1 paper

NM_006060.6

p.V197insFs

c.591dupT

1 paper

NM_006060.6

p.C206R

c.616T>C

1 paper

NM_006060.6

p.G207C

c.619G>T