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.P382Q

c.1145C>A

Surrounding Variants

2 papers

NM_001042413.2

p.G385V

c.1154G>T

1 paper

NM_152629.4

p.G223C

c.667G>T

4 papers

NM_001042413.2

p.P376S

c.1126C>T

3 papers

NM_001042413.2

p.L373V

c.1117C>G

1 paper

NM_001042413.2

p.V372L

c.1114G>T

1 paper

NM_001042413.2

p.G371C

c.1111G>T

1 paper

NM_001042413.2

p.R394R

c.1182C>T

1 paper

NM_001042413.2

p.M395I

c.1185G>T

1 paper

NM_001042413.2

p.M395I

c.1185G>C

1 paper

NM_001042413.2

p.M395I

c.1185G>A

1 paper

NM_001042413.2

p.Q396*

c.1186C>T

2 papers

NM_001042413.2

p.Q397H

c.1191G>T