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.L427_F428del2

c.1279_1283del6

Surrounding Variants

1 paper

NM_001042413.2

p.G426_L427insFs

c.1276_1279dup4

1 paper

NM_001042413.2

p.G426V

c.1277G>T

1 paper

NM_001042413.2

p.R432H

c.1295G>A

1 paper

NM_001042413.2

p.S424W

c.1271C>G

8 papers

NM_001042413.2

p.S424P

c.1270T>C

NM_152629.4

p.S269P

c.805T>C

1 paper

NM_001042413.2

p.D421Y

c.1261G>T

1 paper

NM_001042413.2

p.P418_G419Fs

c.1254_1257delinsCGCAAFs

1 paper

NM_001042413.2

p.T440A

c.1318A>G

1 paper

NM_001042413.2

p.D442A

c.1325A>C

2 papers

NM_001042413.2

p.V413delFs

c.1237delC

2 papers

NM_001042413.2

p.P444fs

c.1330_1331fs

1 paper

NM_001042413.2

p.A446T

c.1336G>A