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

3 papers

NM_007129.5

p.C273Y

c.818G>A

Surrounding Variants

4 papers

NM_007129.5

p.S272N

c.815G>A

2 papers

NM_007129.5

p.K275_T276delFs

c.825_826delAA

1 paper

NM_007129.5

p.K275I

c.824A>T

1 paper

NM_007129.5

p.K271_H281delFs

c.813_843del31

2 papers

NM_007129.5

p.F277insFs

c.829_830dupTT

2 papers

NM_007129.5

p.K270insFs

c.808_809ins17

1 paper

NM_007129.5

p.T279P

c.835A>C

1 paper

NM_007129.5

p.T279I

c.836C>T

1 paper

NM_007129.5

p.L266_S267delFs

c.797_801del5

1 paper

NM_007129.5

p.H281Y

c.841C>T

3 papers

NM_007129.5

p.Q265*

c.793C>T

1 paper

NM_007129.5

p.V284L

c.850G>C