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

1–12 of 389 variants

12 papers

NM_001042413.2

p.R689_D690insFs

c.2067_2068insC

10 papers

NM_001042413.2

p.R589W

c.1765C>T

8 papers

NM_001042413.2

p.S424P

c.1270T>C

7 papers

NM_001042413.2

p.G313A

c.938G>C

7 papers

NM_001042413.2

p.E515D

c.1545G>C

7 papers

NM_001042413.2

p.C536W

c.1608C>G

7 papers

NM_001042413.2

p.A908V

c.2723C>T

6 papers

NM_001042413.2

p.R32*

c.94C>T

6 papers

NM_001042413.2

p.P456Q

c.1367C>A

6 papers

NM_001042413.2

p.E515D

c.1545G>T

6 papers

NM_001042413.2

p.H561Y

c.1681C>T

5 papers

NM_001042413.2

p.S298Y

c.893C>A