Varaico: Literature-Extracted Genetic Variants

Gene:ZIC3
Variant:p.P290delFs

ZIC3

170 papers

RefSeq Summary

This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This nuclear protein probably functions as a transcription factor in early stages of left-right body axis formation. Mut...

Pfam Domains

zf_ZICaa 244–290UCSCZic proteins zinc finger domain
zf-C2H2_15aa 297–326UCSCC2H2 zinc finger
zf-C2H2aa 328–352UCSCZinc finger, C2H2 type
zf-C2H2aa 358–382UCSCZinc finger, C2H2 type
zf-C2H2aa 388–410UCSCZinc finger, C2H2 type
zf-C2H2aa 388–410UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

Zic family zinc finger 3

HGNC Previous Symbol

HTX1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003413.4
p.P290delFs
c.869delC
Surrounding Variants
1 paper
NM_003413.4
p.G289fs
c.865_866fs
1 paper
NM_003413.4
p.P290fs
c.868_869fs
1 paper
NM_003413.4
p.E291_H295del5
c.871_884del15
1 paper
NM_003413.4
p.E291fs
c.871_872fs
1 paper
NM_003413.4
p.G289insFs
c.866dupG
1 paper
NM_003413.4
p.V287delFs
c.861delG
10 papers
NM_003413.4
p.Q292*
c.874C>T
12 papers
NM_003413.4
p.H286R
c.857A>G
1 paper
NM_003413.4
p.H286delFs
c.857_858delAT
1 paper
NM_003413.4
p.Q292H
c.876G>C
1 paper
NM_003413.4
p.Q292H
c.876G>T
1 paper
NM_003413.4
p.N293D
c.877A>G
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