Varaico: Literature-Extracted Genetic Variants

Gene:IKZF3
Variant:p.S215R

IKZF3

209 papers

RefSeq Summary

This gene encodes a member of the Ikaros family of zinc-finger proteins. Three members of this protein family (Ikaros, Aiolos and Helios) are hematopoietic-specific transcription factors involved in t...

Pfam Domains

zf-C2H2aa 146–168UCSCZinc finger, C2H2 type
zf-C2H2aa 146–168UCSCZinc finger, C2H2 type
zf-C2H2aa 146–168UCSCZinc finger, C2H2 type
zf-C2H2aa 146–168UCSCZinc finger, C2H2 type
zf-C2H2aa 146–168UCSCZinc finger, C2H2 type
zf-C2H2aa 146–168UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

IKAROS family zinc finger 3

HGNC Previous Symbol

ZNFN1A3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_012481.5
p.S215R
c.645T>G
Surrounding Variants
4 papers
NM_012481.5
p.S215R
c.645T>A
3 papers
NM_012481.5
p.S215R
c.643A>C
1 paper
NM_012481.5
p.Q213H
c.639G>T
1 paper
NM_012481.5
p.Q213H
c.639G>C
1 paper
NM_012481.5
p.E219K
c.655G>A
1 paper
NM_012481.5
p.C207*
c.621T>A
2 papers
NM_012481.5
p.C224*
c.672C>A
1 paper
NM_012481.5
p.F206C
c.617T>G
1 paper
NM_012481.5
p.R225H
c.674G>A
1 paper
NM_012481.5
p.R225delins
c.673_675delinsTGA
1 paper
NM_012481.5
p.T226S
c.676A>T
1 paper
NM_012481.5
p.L228V
c.682C>G
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