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.A238P

c.712G>C

Surrounding Variants

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

1 paper

NM_003413.4

p.R244Q

c.731G>A

2 papers

NM_003413.4

p.I247V

c.739A>G

1 paper

NM_003413.4

p.V228fs

c.682_683fs

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.M226T

c.677T>C

2 papers

NM_003413.4

p.G227insFs

c.680dupG

1 paper

NM_003413.4

p.M226L

c.676A>C

1 paper

NM_003413.4

p.M226L

c.676A>T