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.C393S

c.1178G>C

Surrounding Variants

1 paper

NM_003413.4

p.C393S

c.1177T>A

1 paper

NM_003413.4

p.Y388C

c.1163A>G

2 papers

NM_003413.4

p.H399Y

c.1195C>T

1 paper

NM_003413.4

p.K386R

c.1157A>G

4 papers

NM_003413.4

p.S402P

c.1204T>C

1 paper

NM_003413.4

p.L403V

c.1207C>G

10 papers

NM_003413.4

p.K405E

c.1213A>G

1 paper

NM_003413.4

p.K408E

c.1222A>G

7 papers

NM_003413.4

p.K408*

c.1222A>T

1 paper

NM_003413.4

p.K408_V409Splc

c.1224+7A>G

1 paper

NM_003413.4

p.R375H

c.1124G>A

1 paper

NM_003413.4

p.S373G

c.1117A>G