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

1 paper

NM_007129.5

p.G72fs

c.214_215fs

Surrounding Variants

1 paper

NM_007129.5

p.G72R

c.214G>C

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

2 papers

NM_007129.5

p.Q73fs

c.217_218fs

1 paper

NM_007129.5

p.L69L

c.205C>T

1 paper

NM_007129.5

p.A76P

c.226G>C

1 paper

NM_007129.5

p.A76V

c.227C>T

1 paper

NM_007129.5

p.F77delFs

c.230_231delTC

2 papers

NM_007129.5

p.P64insFs

c.191dupC

2 papers

NM_007129.5

p.L62fs

c.184_185fs