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

1–12 of 282 variants

8 papers

NM_007129.5

p.Q36P

c.107A>C

6 papers

NM_007129.5

p.H353H

c.1059C>T

6 papers

NM_007129.5

p.R409W

c.1225C>T

5 papers

NM_007129.5

p.H237ins0

c.709_711dupCAC

5 papers

NM_007129.5

p.W304R

c.910T>A

5 papers

NM_007129.5

p.W304R

c.910T>C

5 papers

NM_007129.5

p.C370S

c.1108T>A

5 papers

NM_007129.5

p.C370S

c.1109G>C

4 papers

NM_007129.5

p.P163S

c.487C>T

4 papers

NM_007129.5

p.H239_P240del1

c.716_718delACC

4 papers

NM_007129.5

p.S272N

c.815G>A

4 papers

NM_007129.5

p.H286Q

c.858C>A