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.A55_F56ins2

c.165_166ins6

Surrounding Variants

2 papers

NM_003413.4

p.A55del1

c.163_164delGCC

1 paper

NM_003413.4

p.A55T

c.163G>A

1 paper

NM_003413.4

p.A53insFs

c.159dupC

1 paper

NM_003413.4

p.A50fs

c.148_149fs

2 papers

NM_003413.4

p.A50delFs

c.148delG

1 paper

NM_003413.4

p.P60P

c.180T>A

1 paper

NM_003413.4

p.A63V

c.188C>T

4 papers

NM_003413.4

p.A53_A54ins0

c.159_161dupCGC

1 paper

NM_003413.4

p.A52_A53ins0

c.154_159dup6

3 papers

NM_003413.4

p.A53_A54del1

c.159_161delCGC

1 paper

NM_003413.4

p.H45_A49del0

c.135_146del12

1 paper

NM_003413.4

p.H64fs

c.190_191fs