Varaico: Literature-Extracted Genetic Variants

Gene:IKZF1
Variant:p.R185W

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
Selected Variant
1 paper
NM_006060.6
p.R185W
c.553A>T
Surrounding Variants
16 papers
NM_006060.6
p.R184Q
c.551G>A
1 paper
NM_006060.6
p.R184_R185insAA
c.550_554ins6
7 papers
NM_006060.6
p.R184W
c.550C>T
1 paper
NM_006060.6
p.D186H
c.556G>C
11 papers
NM_006060.6
p.D186fs
c.556_557fs
4 papers
NM_006060.6
p.D186Y
c.556G>T
1 paper
NM_006060.6
p.D186fs
c.556_557fs
2 papers
NM_006060.6
p.D186A
c.557A>C
2 papers
NM_006060.6
p.D186G
c.557A>G
1 paper
NM_006060.6
p.D186V
c.557A>T
1 paper
NM_006060.6
p.R183R
c.549C>T
14 papers
NM_006060.6
p.R183H
c.548G>A
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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."