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.V101delFs

c.302delT

Surrounding Variants

1 paper

NM_003413.4

p.V101V

c.303G>C

1 paper

NM_003413.4

p.S99R

c.297C>A

1 paper

NM_003413.4

p.S99R

c.297C>G

1 paper

NM_003413.4

p.S103N

c.308G>A

1 paper

NM_003413.4

p.Y104H

c.310T>C

1 paper

NM_003413.4

p.H97fs

c.289_290fs

1 paper

NM_003413.4

p.H97_S99delFs

c.291_295del5

1 paper

NM_003413.4

p.H94Q

c.282T>A

1 paper

NM_003413.4

p.H94Q

c.282T>G

2 papers

NM_003413.4

p.S109C

c.326C>G

1 paper

NM_003413.4

p.S109F

c.326C>T

1 paper

NM_003413.4

p.A111insFs

c.332dupC