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.P29L

c.86C>T

Surrounding Variants

4 papers

NM_001042413.2

p.I28V

c.82A>G

1 paper

NM_001042413.2

p.H27Q

c.81C>G

1 paper

NM_001042413.2

p.H27Q

c.81C>A

1 paper

NM_001042413.2

p.I31M

c.93C>G

6 papers

NM_001042413.2

p.R32*

c.94C>T

1 paper

NM_001042413.2

p.R32G

c.94C>G

1 paper

NM_001042413.2

p.H26R

c.77A>G

1 paper

NM_001042413.2

p.G25D

c.74G>A

1 paper

NM_001042413.2

p.S24R

c.72T>G

1 paper

NM_001042413.2

p.S24R

c.72T>A

1 paper

NM_001042413.2

p.H34D

c.100C>G

1 paper

NM_001042413.2

p.H34R

c.101A>G