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.H104R

c.311A>G

Surrounding Variants

1 paper

NM_007129.5

p.A102T

c.304G>A

1 paper

NM_007129.5

p.P111Q

c.332C>A

1 paper

NM_007129.5

p.A96E

c.287C>A

3 papers

NM_007129.5

p.A95T

c.283G>A

1 paper

NM_007129.5

p.A92A

c.276C>G

1 paper

NM_007129.5

p.G87A

c.260G>C

1 paper

NM_007129.5

p.P86L

c.257C>T

2 papers

NM_007129.5

p.S123delFs

c.367delA

3 papers

NM_007129.5

p.D128N

c.382G>A

2 papers

NM_007129.5

p.S129_P131delFs

c.386_392del7

2 papers

NM_007129.5

p.P131_G133delFs

c.392_398del7

1 paper

NM_007129.5

p.F77delFs

c.230_231delTC