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.I352V

c.1054A>G

Surrounding Variants

1 paper

NM_007129.5

p.K351ins2

c.1052_1053ins6

1 paper

NM_007129.5

p.K351_I352ins7

c.1051_1055ins21

2 papers

NM_007129.5

p.K351*

c.1051A>T

1 paper

NM_007129.5

p.H353Y

c.1057C>T

1 paper

NM_007129.5

p.K351insFs

c.1052_1053insAA

6 papers

NM_007129.5

p.H353H

c.1059C>T

1 paper

NM_007129.5

p.K351ins7

c.1052_1053ins21

2 papers

NM_007129.5

p.H357D

c.1069C>G

2 papers

NM_007129.5

p.S347_N349delFs

c.1040_1046del7

1 paper

NM_007129.5

p.R346C

c.1036C>T

1 paper

NM_007129.5

p.A345G

c.1034C>G

2 papers

NM_007129.5

p.G359Splc

c.1075+2T>A