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.V284L

c.850G>C

Surrounding Variants

1 paper

NM_007129.5

p.H286delFs

c.857_858delAC

3 papers

NM_007129.5

p.H286Y

c.856C>T

2 papers

NM_007129.5

p.H286fs

c.856_857fs

3 papers

NM_007129.5

p.H286L

c.857A>T

4 papers

NM_007129.5

p.H286Q

c.858C>A

4 papers

NM_007129.5

p.H286Q

c.858C>G

1 paper

NM_007129.5

p.H281Y

c.841C>T

2 papers

NM_007129.5

p.S288delFs

c.862_863delTC

1 paper

NM_007129.5

p.T279I

c.836C>T

1 paper

NM_007129.5

p.T279P

c.835A>C

1 paper

NM_007129.5

p.V289L

c.865G>C

1 paper

NM_007129.5

p.V289L

c.865G>T