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

2 papers

NM_003413.4

p.I247V

c.739A>G

Surrounding Variants

2 papers

NM_003413.4

p.K248R

c.743A>G

8 papers

NM_003413.4

p.Q249*

c.745C>T

1 paper

NM_003413.4

p.R244Q

c.731G>A

1 paper

NM_003413.4

p.E250*

c.748G>T

2 papers

NM_003413.4

p.S252*

c.755C>A

10 papers

NM_003413.4

p.C253S

c.757T>A

10 papers

NM_003413.4

p.C253S

c.758G>C

8 papers

NM_003413.4

p.W255G

c.763T>G

1 paper

NM_003413.4

p.A238P

c.712G>C

1 paper

NM_003413.4

p.P236H

c.707C>A

1 paper

NM_003413.4

p.G235R

c.703G>A

1 paper

NM_003413.4

p.G235R

c.703G>C