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

2 papers

NM_007129.5

p.G58*

c.172G>T

Surrounding Variants

1 paper

NM_007129.5

p.A59T

c.175G>A

1 paper

NM_007129.5

p.A59G

c.176C>G

2 papers

NM_007129.5

p.L62fs

c.184_185fs

2 papers

NM_007129.5

p.P64insFs

c.191dupC

1 paper

NM_007129.5

p.L69L

c.205C>T

3 papers

NM_007129.5

p.Q46*

c.136C>T

1 paper

NM_007129.5

p.G72R

c.214G>C

1 paper

NM_007129.5

p.G72fs

c.214_215fs

2 papers

NM_007129.5

p.Q73insFs

c.217dupC

2 papers

NM_007129.5

p.Q73delFs

c.217delC

2 papers

NM_007129.5

p.Q73fs

c.217_218fs

2 papers

NM_007129.5

p.Q73*

c.217C>T