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.A82fs

c.244_245fs

Surrounding Variants

1 paper

NM_003413.4

p.Y81*

c.243C>A

1 paper

NM_003413.4

p.Y81Y

c.243C>T

1 paper

NM_003413.4

p.A82A

c.246C>A

1 paper

NM_003413.4

p.Y81H

c.241T>C

1 paper

NM_003413.4

p.Y81insFs

c.241_242dupTA

1 paper

NM_003413.4

p.G80S

c.238G>A

1 paper

NM_003413.4

p.G80R

c.238G>C

1 paper

NM_003413.4

p.G86G

c.258C>A

1 paper

NM_003413.4

p.H87Q

c.261C>A

1 paper

NM_003413.4

p.H88R

c.263A>G

1 paper

NM_003413.4

p.H94Q

c.282T>A

1 paper

NM_003413.4

p.H94Q

c.282T>G