Varaico: Literature-Extracted Genetic Variants

Gene:IKZF2
Variant:p.H417R

IKZF2

138 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 140–162UCSCZinc finger, C2H2 type
zf-C2H2aa 168–190UCSCZinc finger, C2H2 type
zf-C2H2aa 196–219UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

IKAROS family zinc finger 2

HGNC Previous Symbol

ZNFN1A2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001387220.1
p.H417R
c.1250A>G
Surrounding Variants
1 paper
NM_001387220.1
p.H417H
c.1251C>T
1 paper
NM_001387220.1
p.H423N
c.1267C>A
1 paper
NM_001387220.1
p.T408P
c.1222A>C
1 paper
NM_001387220.1
p.K429R
c.1286A>G
1 paper
NM_001387220.1
p.K431*
c.1291A>T
1 paper
NM_001387220.1
p.S401C
c.1201A>T
1 paper
NM_001387220.1
p.P400S
c.1198C>T
1 paper
NM_001387220.1
p.E395K
c.1183G>A
1 paper
NM_001387220.1
p.S453C
c.1358C>G
1 paper
NM_001387220.1
p.M380R
c.1139T>G
1 paper
NM_001387220.1
p.I457F
c.1369A>T
1 paper
NM_001387220.1
p.A373S
c.1117G>T
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