Varaico: Literature-Extracted Genetic Variants

Gene:IKZF1

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 145–167UCSCZinc finger, C2H2 type
zf-C2H2aa 173–195UCSCZinc finger, C2H2 type
zf-C2H2aa 173–195UCSCZinc finger, C2H2 type
zf-C2H2aa 201–224UCSCZinc 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
1–12 of 973 variants
70 papers
NM_006060.6
p.N159S
c.476A>G
55 papers
NM_006060.6
p.N159Y
c.475A>T
23 papers
NM_006060.6
p.G158S
c.472G>A
22 papers
NM_006060.6
p.R162Q
c.485G>A
19 papers
NM_006060.6
p.R162W
c.484C>T
18 papers
NM_006060.6
p.Y210C
c.629A>G
17 papers
NM_006060.6
p.R162L
c.485G>T
17 papers
NM_006060.6
p.H167R
c.500A>G
16 papers
NM_006060.6
p.R143W
c.427C>T
16 papers
NM_006060.6
p.R184Q
c.551G>A
14 papers
NM_006060.6
p.R183H
c.548G>A
14 papers
NM_006060.6
p.R213*
c.637C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."