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.T592R

c.1775C>G

Surrounding Variants

1 paper

NM_001042413.2

p.T592S

c.1774A>T

1 paper

NM_001042413.2

p.G593G

c.1779C>A

1 paper

NM_001042413.2

p.E594K

c.1780G>A

10 papers

NM_001042413.2

p.R589W

c.1765C>T

1 paper

NM_001042413.2

p.P596L

c.1787C>T

1 paper

NM_001042413.2

p.P602delFs

c.1805_1806delCG

1 paper

NM_152629.4

p.S424P

c.1270T>C

1 paper

NM_001042413.2

p.E575K

c.1723G>A

1 paper

NM_001042413.2

p.E572V

c.1715A>T

1 paper

NM_001042413.2

p.R614G

c.1840C>G

2 papers

NM_001042413.2

p.A615T

c.1843G>A

1 paper

NM_001042413.2

p.T620M

c.1859C>T