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.S45N

c.134G>A

Surrounding Variants

1 paper

NM_001042413.2

p.S45C

c.133A>T

1 paper

NM_001042413.2

p.T46T

c.138A>G

2 papers

NM_001042413.2

p.S47*

c.140C>A

1 paper

NM_001042413.2

p.C43G

c.127T>G

1 paper

NM_001042413.2

p.P38R

c.113C>G

2 papers

NM_001042413.2

p.S53N

c.158G>A

1 paper

NM_001042413.2

p.T37I

c.110C>T

2 papers

NM_001042413.2

p.G36R

c.106G>C

2 papers

NM_001042413.2

p.G36R

c.106G>A

1 paper

NM_001042413.2

p.H34R

c.101A>G

1 paper

NM_001042413.2

p.A33insFs

c.98dupC

1 paper

NM_001042413.2

p.H34D

c.100C>G