Varaico: Literature-Extracted Genetic Variants

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 173–195UCSCZinc 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.G141E

c.422G>A

Surrounding Variants

1 paper

NM_006060.6

p.G141Splc

c.422-1G>A

1 paper

NM_006060.6

p.E142V

c.425A>T

16 papers

NM_006060.6

p.R143W

c.427C>T

4 papers

NM_006060.6

p.R143Q

c.428G>A

1 paper

NM_006060.6

p.Q146Fs

c.436_438delinsGGGCTCCCTAAFs

1 paper

NM_006060.6

p.Q146Q

c.438G>A

6 papers

NM_006060.6

p.Q146H

c.438G>C

6 papers

NM_006060.6

p.Q146H

c.438G>T

1 paper

NM_006060.6

p.C147S

c.439T>A

11 papers

NM_006060.6

p.C147R

c.439T>C

2 papers

NM_006060.6

p.Q149*

c.445C>T

8 papers

NM_006060.6

p.C150R

c.448T>C