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.P336L

c.1007C>T

Surrounding Variants

1 paper

NM_007129.5

p.C335Y

c.1004G>A

3 papers

NM_007129.5

p.C335F

c.1004G>T

1 paper

NM_007129.5

p.P332_C335ins1

c.994_1005dup12

3 papers

NM_007129.5

p.K342delFs

c.1025_1026delAA

1 paper

NM_007129.5

p.K342Q

c.1024A>C

1 paper

NM_007129.5

p.E330G

c.989A>G

1 paper

NM_007129.5

p.K342N

c.1026A>C

1 paper

NM_007129.5

p.K342N

c.1026A>T

2 papers

NM_007129.5

p.F344delFs

c.1031_1032delTC

1 paper

NM_007129.5

p.A345G

c.1034C>G

3 papers

NM_007129.5

p.H327Y

c.979C>T

1 paper

NM_007129.5

p.R346C

c.1036C>T