Varaico: Literature-Extracted Genetic Variants

ZIC2

173 papers

RefSeq Summary

This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This protein functions as a transcriptional repressor and may regulate tissue specific expression of dopamine receptor D...

Pfam Domains

zf_ZICaa 248–295UCSCZic proteins zinc finger domain

zf-C2H2_15aa 302–331UCSCC2H2 zinc finger

zf-C2H2aa 333–357UCSCZinc finger, C2H2 type

zf-C2H2aa 363–387UCSCZinc finger, C2H2 type

zf-C2H2aa 393–415UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

Zic family zinc finger 2

HGNC Alias Symbol

HPE5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_007129.5

p.Y194*

c.582C>G

Surrounding Variants

3 papers

NM_007129.5

p.Y194*

c.582C>A

2 papers

NM_007129.5

p.Q193delFs

c.577delC

1 paper

NM_007129.5

p.P200R

c.599C>G

1 paper

NM_007129.5

p.T202_D203insFs

c.606_607insA

3 papers

NM_007129.5

p.P204delFs

c.612delC

1 paper

NM_007129.5

p.Y205fs

c.613_614fs

1 paper

NM_007129.5

p.S206insFs

c.617_618insT

1 paper

NM_007129.5

p.S206_A207insFs

c.618_619insC

1 paper

NM_007129.5

p.H211R

c.632A>G

1 paper

NM_007129.5

p.M217fs

c.649_650fs

1 paper

NM_007129.5

p.M217delFs

c.651delG

1 paper

NM_007129.5

p.S171L

c.512C>T