Varaico: Literature-Extracted Genetic Variants

ZIC5

30 papers

RefSeq Summary

This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. The encoded protein may act as a transcriptional repressor. Studies in mouse and Xenopus support a role for this gene in...

Pfam Domains

zf_ZICaa 398–429UCSCZic proteins zinc finger domain

zf-C2H2_15aa 436–465UCSCC2H2 zinc finger

zf-C2H2aa 467–491UCSCZinc finger, C2H2 type

zf-C2H2aa 527–551UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

Zic family zinc finger 5

HGNC Previous Names

Zic family member 5; Zic family member 5 (odd-paired homolog, Drosophila)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_033132.5

p.L35P

c.104T>C

Surrounding Variants

1 paper

NM_033132.5

p.P3L

c.8C>T

1 paper

NM_033132.5

p.S138delFs

c.413_414delTG

5 papers

NM_033132.5

p.P140_P141delFs

c.420_421delGA

2 papers

NM_033132.5

p.P140_P141delFs

c.418_421del4

1 paper

NM_033132.5

p.H189H

c.567C>T

1 paper

NM_033132.5

p.E196V

c.587A>T

1 paper

NM_033132.5

p.T201I

c.602C>T

1 paper

NM_033132.5

p.A298P

c.892G>C

1 paper

NM_033132.5

p.P388Q

c.1163C>A

1 paper

NM_033132.5

p.P389S

c.1165C>T

1 paper

NM_033132.5

p.P396_P397del1

c.1188_1190delGGC

1 paper

NM_033132.5

p.P395_P397del0

c.1185_1190del6