Varaico: Literature-Extracted Genetic Variants

Gene:IKZF3
Variant:p.H104L

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
1 paper
NM_012481.5
p.H104L
c.311A>T
Surrounding Variants
1 paper
NM_012481.5
p.I99fs
c.295_296fs
1 paper
NM_012481.5
p.Y93N
c.277T>A
1 paper
NM_012481.5
p.K117*
c.349A>T
1 paper
NM_012481.5
p.R91fs
c.271_272fs
1 paper
NM_012481.5
p.R91T
c.272G>C
1 paper
NM_012481.5
p.K117N
c.351G>T
1 paper
NM_012481.5
p.K117N
c.351G>C
1 paper
NM_012481.5
p.M118delins
c.352_353delinsGC
1 paper
NM_012481.5
p.N119D
c.355A>G
1 paper
NM_012481.5
p.Y89C
c.266A>G
1 paper
NM_012481.5
p.N119delins
c.355_356delinsGC
1 paper
NM_012481.5
p.S88R
c.264C>G
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