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

6 papers

NM_001042413.2

p.P456Q

c.1367C>A

Surrounding Variants

1 paper

NM_001042413.2

p.H463P

c.1388A>C

1 paper

NM_001042413.2

p.A446T

c.1336G>A

3 papers

NM_001042413.2

p.P444delFs

c.1330delG

1 paper

NM_001042413.2

p.A446fs

c.1336_1337fs

2 papers

NM_001042413.2

p.P444fs

c.1330_1331fs

1 paper

NM_001042413.2

p.D442A

c.1325A>C

1 paper

NM_001042413.2

p.T440A

c.1318A>G

1 paper

NM_001042413.2

p.L473F

c.1417C>T

1 paper

NM_001042413.2

p.A477V

c.1430C>T

1 paper

NM_001042413.2

p.R432H

c.1295G>A

1 paper

NM_001042413.2

p.L427_F428del2

c.1279_1283del6

1 paper

NM_001042413.2

p.G426_L427insFs

c.1276_1279dup4