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.S406C

c.1216A>T

Surrounding Variants

2 papers

NM_007129.5

p.S406fs

c.1216_1217fs

1 paper

NM_007129.5

p.P405H

c.1214C>A

1 paper

NM_007129.5

p.P405T

c.1213C>A

1 paper

NM_007129.5

p.P405_S406Fs

c.1213_1216delinsGCATGFs

1 paper

NM_007129.5

p.P405_S406Fs

c.1213_1216delinsGCATGTFs

2 papers

NM_007129.5

p.P405insFs

c.1215dupC

3 papers

NM_007129.5

p.H404R

c.1211A>G

1 paper

NM_007129.5

p.H404_S406delins

c.1211_1217delinsC

4 papers

NM_007129.5

p.T403K

c.1208C>A

6 papers

NM_007129.5

p.R409W

c.1225C>T

4 papers

NM_007129.5

p.Y402*

c.1206C>A

4 papers

NM_007129.5

p.Y402*

c.1206C>G