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

5 papers

NM_007129.5

p.W304R

c.910T>C

Surrounding Variants

5 papers

NM_007129.5

p.W304R

c.910T>A

2 papers

NM_007129.5

p.W304*

c.911G>A

2 papers

NM_007129.5

p.W304*

c.912G>A

1 paper

NM_007129.5

p.E306*

c.916G>T

1 paper

NM_007129.5

p.V301I

c.901G>A

1 paper

NM_007129.5

p.C307Y

c.920G>A

2 papers

NM_007129.5

p.H300R

c.899A>G

1 paper

NM_007129.5

p.R309L

c.926G>T

2 papers

NM_007129.5

p.E310*

c.928G>T

1 paper

NM_007129.5

p.E310_G311insFs

c.930_931insG

2 papers

NM_007129.5

p.G311delFs

c.932delG

2 papers

NM_007129.5

p.K312_P313insFs

c.936_937insT