Varaico: Literature-Extracted Genetic Variants

Gene:IKZF1
Variant:p.L232insFs

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.L232insFs
c.694_695insC
Surrounding Variants
2 papers
NM_006060.6
p.G231C
c.691G>T
1 paper
NM_006060.6
p.L232insFs
c.694_695insA
1 paper
NM_006060.6
p.L232_P233insAG
c.694_698ins6
1 paper
NM_006060.6
p.L232H
c.695T>A
1 paper
NM_006060.6
p.L232R
c.695T>G
1 paper
NM_006060.6
p.L232_T235delFs
c.696_705del10
1 paper
NM_006060.6
p.P233S
c.697C>T
1 paper
NM_006060.6
p.P233R
c.698C>G
1 paper
NM_006060.6
p.S229N
c.686G>A
1 paper
NM_006060.6
p.S229R
c.685A>C
1 paper
NM_006060.6
p.G234ins1
c.700_701insCCG
1 paper
NM_006060.6
p.G234R
c.700G>C
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