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.C395fs

c.1183_1184fs

Surrounding Variants

1 paper

NM_007129.5

p.L394I

c.1180C>A

1 paper

NM_007129.5

p.L394_C395insFs

c.1182_1183dupCT

1 paper

NM_007129.5

p.K396_M397insFs

c.1188_1189insC

1 paper

NM_007129.5

p.D399G

c.1196A>G

1 paper

NM_007129.5

p.S389insFs

c.1165_1166insA

1 paper

NM_007129.5

p.S401_R409del0

c.1202_1225del24

1 paper

NM_007129.5

p.T388N

c.1163C>A

3 papers

NM_007129.5

p.Y402N

c.1204T>A

4 papers

NM_007129.5

p.Y402*

c.1206C>A

4 papers

NM_007129.5

p.Y402*

c.1206C>G

4 papers

NM_007129.5

p.T403K

c.1208C>A

1 paper

NM_007129.5

p.V386I

c.1156G>A