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.M68V

c.202A>G

Surrounding Variants

1 paper

NM_001042413.2

p.G67delFs

c.201delC

1 paper

NM_001042413.2

p.A69S

c.205G>T

1 paper

NM_001042413.2

p.S64_G66del0

c.191_196del6

3 papers

NM_001042413.2

p.G66*

c.196G>T

1 paper

NM_001042413.2

p.Q71*

c.211C>T

2 papers

NM_001042413.2

p.N72S

c.215A>G

1 paper

NM_001042413.2

p.N73T

c.218A>C

1 paper

NM_001042413.2

p.K61_M62delFs

c.181_184del4

1 paper

NM_001042413.2

p.V74M

c.220G>A

1 paper

NM_001042413.2

p.A75P

c.223G>C

1 paper

NM_001042413.2

p.K61E

c.181A>G

1 paper

NM_001042413.2

p.S77R

c.229A>C