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.P124S

c.370C>T

Surrounding Variants

1 paper

NM_001042413.2

p.G120R

c.358G>C

1 paper

NM_001042413.2

p.G120R

c.358G>A

1 paper

NM_001042413.2

p.F119L

c.357T>G

1 paper

NM_001042413.2

p.F119L

c.357T>A

1 paper

NM_001042413.2

p.F119L

c.355T>C

2 papers

NM_001042413.2

p.G130Splc

c.388+1G>A

1 paper

NM_001042413.2

p.S109_L112delFs

c.327_334del8

2 papers

NM_001042413.2

p.T111S

c.332C>G

1 paper

NM_001042413.2

p.H110insFs

c.328dupC

1 paper

NM_001042413.2

p.H110insFs

c.328_329insG

1 paper

NM_001042413.2

p.G105R

c.313G>C

4 papers

NM_001042413.2

p.G105S

c.313G>A