Varaico: Literature-Extracted Genetic Variants

GLIS3

219 papers

RefSeq Summary

This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear protein with five C2H2-type zinc finger domains. This protein functions as both a repressor and activator of t...

Pfam Domains

zf-C2H2_15aa 381–410UCSCC2H2 zinc finger

zf-C2H2aa 412–436UCSCZinc finger, C2H2 type

zf-C2H2aa 442–466UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

GLIS family zinc finger 3

HGNC Previous Symbol

ZNF515

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001042413.2

p.A296D

c.887C>A

Surrounding Variants

1 paper

NM_001042413.2

p.A296T

c.886G>A

1 paper

NM_001042413.2

p.R297H

c.890G>A

6 papers

NM_001042413.2

p.S298Y

c.893C>A

NM_152629.4

p.S143Y

c.428C>A

1 paper

NM_001042413.2

p.R301R

c.903A>G

1 paper

NM_001042413.2

p.S289*

c.866C>G

1 paper

NM_001042413.2

p.S289*

c.866C>A

1 paper

NM_001042413.2

p.L305V

c.913T>G

4 papers

NM_001042413.2

p.P282A

c.844C>G

3 papers

NM_001042413.2

p.G311fs

c.931_932fs

1 paper

NM_001042413.2

p.G311D

c.932G>A

1 paper

NM_001042413.2

p.S281F

c.842C>T

3 papers

NM_001042413.2

p.G311fs

c.931_932fs