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.P175L

c.524C>T

Surrounding Variants

1 paper

NM_003413.4

p.G177delFs

c.531delG

1 paper

NM_003413.4

p.G177R

c.529G>A

1 paper

NM_003413.4

p.G177R

c.529G>C

1 paper

NM_003413.4

p.H178fs

c.532_533fs

1 paper

NM_003413.4

p.G171insFs

c.512_513insGC

1 paper

NM_003413.4

p.D180N

c.538G>A

1 paper

NM_003413.4

p.G169R

c.505G>C

1 paper

NM_003413.4

p.H166delFs

c.498delT

1 paper

NM_003413.4

p.H185N

c.553C>A

1 paper

NM_003413.4

p.H185Q

c.555C>A

1 paper

NM_003413.4

p.L165_H166ins6

c.493_497ins18

1 paper

NM_003413.4

p.H185Q

c.555C>G