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.S132L

c.395C>T

Surrounding Variants

1 paper

NM_003413.4

p.G135_S146del12

c.403_437del36

1 paper

NM_003413.4

p.G135_H137del3

c.403_410del9

1 paper

NM_003413.4

p.G135E

c.404G>A

1 paper

NM_003413.4

p.H137Y

c.409C>T

1 paper

NM_003413.4

p.S124I

c.371G>T

1 paper

NM_003413.4

p.R123R

c.369C>A

1 paper

NM_003413.4

p.A141S

c.421G>T

1 paper

NM_003413.4

p.R123H

c.368G>A

1 paper

NM_003413.4

p.G142S

c.424G>A

1 paper

NM_003413.4

p.Q122delFs

c.364delC

1 paper

NM_003413.4

p.A144V

c.431C>T

1 paper

NM_003413.4

p.F120C

c.359T>G