Varaico: Literature-Extracted Genetic Variants

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.I122N

c.365T>A

Surrounding Variants

1 paper

NM_001387220.1

p.V120_C121delins

c.360_361delinsGG

1 paper

NM_001387220.1

p.N125T

c.374A>C

1 paper

NM_001387220.1

p.V116_C117delins

c.348_349delinsCG

1 paper

NM_001387220.1

p.H130L

c.389A>T

2 papers

NM_001387220.1

p.K131*

c.391A>T

1 paper

NM_001387220.1

p.R132K

c.395G>A

1 paper

NM_001387220.1

p.G136Splc

c.406+1G>C

2 papers

NM_001387220.1

p.R106Q

c.317G>A

2 papers

NM_001387220.1

p.R106W

c.316C>T

1 paper

NM_001387220.1

p.Q100*

c.298C>T

1 paper

NM_001387220.1

p.E98D

c.294G>T

1 paper

NM_001387220.1

p.E98D

c.294G>C