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

2 papers

NM_001042413.2

p.P703S

c.2107C>T

Surrounding Variants

3 papers

NM_001042413.2

p.R699H

c.2096G>A

1 paper

NM_001042413.2

p.R699C

c.2095C>T

1 paper

NM_001042413.2

p.V697M

c.2089G>A

2 papers

NM_001042413.2

p.A691V

c.2072C>T

1 paper

NM_001042413.2

p.R689S

c.2067A>T

1 paper

NM_001042413.2

p.R689S

c.2067A>C

12 papers

NM_001042413.2

p.R689_D690insFs

c.2067_2068insC

1 paper

NM_001042413.2

p.S687F

c.2060C>T

1 paper

NM_001042413.2

p.A685T

c.2053G>A

1 paper

NM_001042413.2

p.P684L

c.2051C>T

1 paper

NM_152629.4

p.P529R

c.1586C>G

2 papers

NM_001042413.2

p.H669R

c.2006A>G