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

1 paper

NM_003413.4

p.E325fs

c.973_974fs

Surrounding Variants

12 papers

NM_003413.4

p.T323M

c.968C>T

1 paper

NM_003413.4

p.T323fs

c.967_968fs

1 paper

NM_003413.4

p.T323_G324Fs

c.967_970delinsCCTFs

1 paper

NM_003413.4

p.V321A

c.962T>C

1 paper

NM_003413.4

p.V321L

c.961G>C

1 paper

NM_003413.4

p.P329L

c.986C>T

2 papers

NM_003413.4

p.R320*

c.958C>T

1 paper

NM_003413.4

p.C330*

c.990C>A

3 papers

NM_003413.4

p.H318N

c.952C>A

1 paper

NM_003413.4

p.F332C

c.995T>G

1 paper

NM_003413.4

p.G334V

c.1001G>T

1 paper

NM_003413.4

p.C335S

c.1003T>A