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.M225I

c.675G>T

Surrounding Variants

1 paper

NM_007129.5

p.M225I

c.675G>A

1 paper

NM_007129.5

p.M225I

c.675G>C

1 paper

NM_007129.5

p.A229V

c.686C>T

1 paper

NM_007129.5

p.G222S

c.664G>A

1 paper

NM_007129.5

p.A230_H231del2

c.688_692del6

1 paper

NM_007129.5

p.M221L

c.661A>C

1 paper

NM_007129.5

p.M221L

c.661A>T

5 papers

NM_007129.5

p.H237ins0

c.709_711dupCAC

4 papers

NM_007129.5

p.H239_P240del1

c.716_718delACC

2 papers

NM_007129.5

p.H237_H239del0

c.709_717del9

1 paper

NM_007129.5

p.H231Y

c.691C>T

1 paper

NM_007129.5

p.H231R

c.692A>G