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.S924A

c.2770T>G

Surrounding Variants

1 paper

NM_152629.4

p.S769F

c.2306C>T

1 paper

NM_001042413.2

p.E929K

c.2785G>A

1 paper

NM_001042413.2

p.V916del1

c.2746_2747delCAC

1 paper

NM_001042413.2

p.D917N

c.2749G>A

1 paper

NM_001042413.2

p.V916L

c.2746G>T

1 paper

NM_001042413.2

p.V916L

c.2746G>C

1 paper

NM_001042413.2

p.V916M

c.2746G>A

1 paper

NM_001042413.2

p.S914N

c.2741G>A

7 papers

NM_001042413.2

p.A908V

c.2723C>T

2 papers

NM_001042413.2

p.G904R

c.2710G>C

2 papers

NM_001042413.2

p.G904R

c.2710G>A

1 paper

NM_001042413.2

p.R902H

c.2705G>A