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.Q46*

c.136C>T

Surrounding Variants

3 papers

NM_007129.5

p.D37N

c.109G>A

8 papers

NM_007129.5

p.Q36P

c.107A>C

2 papers

NM_007129.5

p.G58*

c.172G>T

1 paper

NM_007129.5

p.A33V

c.98C>T

1 paper

NM_007129.5

p.A59T

c.175G>A

1 paper

NM_007129.5

p.A59G

c.176C>G

1 paper

NM_007129.5

p.A31A

c.93T>G

1 paper

NM_007129.5

p.A33del1

c.97_98delGCC

1 paper

NM_007129.5

p.A31G

c.92C>G

1 paper

NM_007129.5

p.A31P

c.91G>C

2 papers

NM_007129.5

p.A30G

c.89C>G

2 papers

NM_007129.5

p.L62fs

c.184_185fs