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.G313R

c.937G>C

Surrounding Variants

2 papers

NM_001042413.2

p.G313R

c.937G>A

8 papers

NM_152629.4

p.G158A

c.473G>C

NM_001042413.2

p.G313A

c.938G>C

3 papers

NM_001042413.2

p.G311fs

c.931_932fs

5 papers

NM_001042413.2

p.G311delFs

c.932delC

1 paper

NM_001042413.2

p.G311D

c.932G>A

3 papers

NM_001042413.2

p.G311fs

c.931_932fs

1 paper

NM_001042413.2

p.I320T

c.959T>C

1 paper

NM_001042413.2

p.L305V

c.913T>G

1 paper

NM_001042413.2

p.I319_I320del1

c.956_958delTGA

1 paper

NM_001042413.2

p.S323L

c.968C>T

1 paper

NM_001042413.2

p.R301R

c.903A>G

1 paper

NM_001042413.2

p.T325M

c.974C>T