Varaico: Literature-Extracted Genetic Variants

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

Gene Aliases

HGNC Name

Zic family zinc finger 3

HGNC Previous Symbol

HTX1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_003413.4

p.H281delFs

c.842_843delAT

Surrounding Variants

1 paper

NM_003413.4

p.H281Y

c.841C>T

2 papers

NM_003413.4

p.H281fs

c.841_842fs

2 papers

NM_003413.4

p.H281R

c.842A>G

1 paper

NM_003413.4

p.V282D

c.845T>A

1 paper

NM_003413.4

p.M284I

c.852G>A

1 paper

NM_003413.4

p.E285_H286delFs

c.854_858del5

1 paper

NM_003413.4

p.H286delFs

c.857_858delAT

12 papers

NM_003413.4

p.H286R

c.857A>G

1 paper

NM_003413.4

p.G289insFs

c.866dupG

1 paper

NM_003413.4

p.V287delFs

c.861delG

1 paper

NM_003413.4

p.T274A

c.820A>G

1 paper

NM_003413.4

p.G289fs

c.865_866fs