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

6 papers

NM_001042413.2

p.H561Y

c.1681C>T

Surrounding Variants

1 paper

NM_001042413.2

p.I556M

c.1668C>G

2 papers

NM_001042413.2

p.T570M

c.1709C>T

1 paper

NM_001042413.2

p.Y545*

c.1635C>G

1 paper

NM_001042413.2

p.Y545insFs

c.1634dupA

1 paper

NM_001042413.2

p.Y545*

c.1635C>A

1 paper

NM_001042413.2

p.R544K

c.1631G>A

7 papers

NM_001042413.2

p.C536W

c.1608C>G

1 paper

NM_001042413.2

p.C536fs

c.1606_1607fs

1 paper

NM_001042413.2

p.C536insFs

c.1606dupT

1 paper

NM_001042413.2

p.D533N

c.1597G>A

4 papers

NM_001042413.2

p.K530*

c.1588A>T

1 paper

NM_001042413.2

p.I521I

c.1563C>T