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.D250insFs

c.748dupG

Surrounding Variants

1 paper

NM_001042413.2

p.G249R

c.745G>C

1 paper

NM_001042413.2

p.G249R

c.745G>A

1 paper

NM_001042413.2

p.S253T

c.758G>C

1 paper

NM_001042413.2

p.P255L

c.764C>T

1 paper

NM_001042413.2

p.N239N

c.717C>T

1 paper

NM_001042413.2

p.S238C

c.713C>G

2 papers

NM_001042413.2

p.S236A

c.706T>G

1 paper

NM_001042413.2

p.P235_S236insFs

c.705_706insG

1 paper

NM_001042413.2

p.V265F

c.793G>T

1 paper

NM_001042413.2

p.P235R

c.704C>G

3 papers

NM_001042413.2

p.L269L

c.805T>C

1 paper

NM_152629.4

p.G75R

c.223G>C