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.M411K

c.1232T>A

Surrounding Variants

1 paper

NM_001042413.2

p.N409K

c.1227C>G

1 paper

NM_001042413.2

p.N409K

c.1227C>A

2 papers

NM_001042413.2

p.V413delFs

c.1237delC

1 paper

NM_001042413.2

p.G406C

c.1216G>T

1 paper

NM_001042413.2

p.P405L

c.1214C>T

1 paper

NM_001042413.2

p.Q404H

c.1212G>T

1 paper

NM_001042413.2

p.Q404H

c.1212G>C

1 paper

NM_001042413.2

p.Q404*

c.1210C>T

1 paper

NM_001042413.2

p.Q404K

c.1210C>A

1 paper

NM_001042413.2

p.P418_G419Fs

c.1254_1257delinsCGCAAFs

1 paper

NM_001042413.2

p.D421Y

c.1261G>T

1 paper

NM_152629.4

p.G246G

c.738C>G