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

2 papers

NM_001042413.2

p.R78C

c.232C>T

Surrounding Variants

1 paper

NM_001042413.2

p.R78G

c.232C>G

1 paper

NM_001042413.2

p.R78S

c.232C>A

1 paper

NM_001042413.2

p.R78H

c.233G>A

1 paper

NM_001042413.2

p.S77R

c.231C>G

1 paper

NM_001042413.2

p.S77R

c.231C>A

1 paper

NM_001042413.2

p.S77R

c.229A>C

1 paper

NM_001042413.2

p.I79I

c.237C>A

1 paper

NM_001042413.2

p.A75P

c.223G>C

1 paper

NM_001042413.2

p.V74M

c.220G>A

1 paper

NM_001042413.2

p.P82L

c.245C>T

1 paper

NM_001042413.2

p.N73T

c.218A>C

2 papers

NM_001042413.2

p.N72S

c.215A>G