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.D494N

c.1480G>A

Surrounding Variants

1 paper

NM_001042413.2

p.G495S

c.1483G>A

1 paper

NM_001042413.2

p.A481_G491del11

c.1441_1472del33

1 paper

NM_001042413.2

p.C502R

c.1504T>C

1 paper

NM_001042413.2

p.D506E

c.1518C>G

1 paper

NM_001042413.2

p.D506E

c.1518C>A

1 paper

NM_001042413.2

p.D506delFs

c.1517delT

1 paper

NM_152629.4

p.A354T

c.1060G>A

1 paper

NM_001042413.2

p.A477V

c.1430C>T

2 papers

NM_001042413.2

p.Y511*

c.1533C>G

2 papers

NM_001042413.2

p.Y511*

c.1533C>A

1 paper

NM_001042413.2

p.D512N

c.1534G>A

3 papers

NM_001042413.2

p.D512E

c.1536C>G