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.S337*

c.1010C>A

Surrounding Variants

1 paper

NM_001042413.2

p.P338S

c.1012C>T

1 paper

NM_001042413.2

p.L327_S334del8

c.979_1001del24

1 paper

NM_001042413.2

p.G333R

c.997G>C

1 paper

NM_001042413.2

p.G333R

c.997G>A

1 paper

NM_001042413.2

p.Y330*

c.990C>G

1 paper

NM_001042413.2

p.Y330*

c.990C>A

2 papers

NM_001042413.2

p.Y330C

c.989A>G

2 papers

NM_001042413.2

p.Y330S

c.989A>C

1 paper

NM_001042413.2

p.E346*

c.1036G>T

1 paper

NM_001042413.2

p.V328_A329insG

c.982_986ins3

1 paper

NM_152629.4

p.L172L

c.516G>A

1 paper

NM_001042413.2

p.V347delFs

c.1041delG