Varaico: Literature-Extracted Genetic Variants

Gene:ZIC4
Variant:p.K183E

ZIC4

54 papers

RefSeq Summary

This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. Members of this family are important during development, and have been associated with X-linked visceral heterotaxy and ...

Pfam Domains

zf_ZICaa 121–166UCSCZic proteins zinc finger domain
zf_ZICaa 121–166UCSCZic proteins zinc finger domain
zf-C2H2_15aa 173–202UCSCC2H2 zinc finger
zf-C2H2_15aa 173–202UCSCC2H2 zinc finger
zf-C2H2aa 204–228UCSCZinc finger, C2H2 type
zf-C2H2aa 204–228UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

Zic family zinc finger 4

HGNC Previous Names

Zic family member 4; zinc finger protein of the cerebellum 4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032153.6
p.K183E
c.547A>G
Surrounding Variants
1 paper
NM_032153.6
p.E177G
c.530A>G
1 paper
NM_032153.6
p.V192L
c.574G>T
1 paper
NM_032153.6
p.V192L
c.574G>C
1 paper
NM_032153.6
p.V192A
c.575T>C
1 paper
NM_032153.6
p.H171Y
c.511C>T
1 paper
NM_032153.6
p.I195T
c.584T>C
1 paper
NM_032153.6
p.V163I
c.487G>A
1 paper
NM_032153.6
p.F204S
c.611T>C
1 paper
NM_001168378.1
p.F254fs
c.760_761fs
NM_032153.6
p.F204fs
c.610_611fs
NM_001168379.2
p.F242fs
c.724_725fs
1 paper
NM_032153.6
p.K213N
c.639G>T
1 paper
NM_032153.6
p.K213N
c.639G>C
1 paper
NM_032153.6
p.M151V
c.451A>G
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