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

5 papers

NM_007129.5

p.C370S

c.1109G>C

Surrounding Variants

1 paper

NM_007129.5

p.C370Y

c.1109G>A

5 papers

NM_007129.5

p.C370S

c.1108T>A

1 paper

NM_007129.5

p.G369A

c.1106G>C

1 paper

NM_007129.5

p.R372W

c.1114C>T

1 paper

NM_007129.5

p.E368Q

c.1102G>C

1 paper

NM_007129.5

p.R373C

c.1117C>T

3 papers

NM_007129.5

p.R373P

c.1118G>C

2 papers

NM_007129.5

p.R373_F374delFs

c.1119_1120delCT

1 paper

NM_007129.5

p.E366D

c.1098G>C

1 paper

NM_007129.5

p.E366D

c.1098G>T

3 papers

NM_007129.5

p.E366fs

c.1096_1097fs

4 papers

NM_007129.5

p.C365*

c.1095T>A