Varaico: Literature-Extracted Genetic Variants

Gene:ZIC5
Variant:p.P388Q

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.P388Q
c.1163C>A
Surrounding Variants
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
1 paper
NM_033132.5
p.G402C
c.1204G>T
1 paper
NM_033132.5
p.P406L
c.1217C>T
1 paper
NM_033132.5
p.T410ins1
c.1229_1230insACC
1 paper
NM_033132.5
p.T413_M414del1
c.1239_1241delATG
1 paper
NM_033132.5
p.T413_M414del2
c.1237_1241del6
2 papers
NM_033132.5
p.V418_V421del0
c.1254_1262del9
5 papers
NM_033132.5
p.H420_V421del1
c.1260_1262delACG
5 papers
NM_033132.5
p.H420_V421del2
c.1258_1262del6
2 papers
NM_033132.5
p.V418_V421del4
c.1252_1262del12
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