Varaico: Literature-Extracted Genetic Variants

GLI3

1,956 papers

RefSeq Summary

This gene encodes a protein which belongs to the C2H2-type zinc finger proteins subclass of the Gli family. They are characterized as DNA-binding transcription factors and are mediators of Sonic hedge...

Pfam Domains

zf-C2H2_15aa 515–544UCSCC2H2 zinc finger

zf-C2H2aa 546–570UCSCZinc finger, C2H2 type

zf-C2H2aa 607–632UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

GLI family zinc finger 3

HGNC Previous Symbols

GCPS; PHS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

10 papers

NM_000168.6

p.R290*

c.868C>T

Surrounding Variants

1 paper

NM_000168.6

p.R290insFs

c.868_869insT

1 paper

NM_000168.6

p.K291*

c.871A>T

1 paper

NM_000168.6

p.S289_R290del2

c.865_869del6

3 papers

NM_000168.6

p.R292C

c.874C>T

1 paper

NM_000168.6

p.P288S

c.862C>T

1 paper

NM_000168.6

p.P288A

c.862C>G

1 paper

NM_000168.6

p.R287K

c.860G>A

2 papers

NM_000168.6

p.T293I

c.878C>T

1 paper

NM_000168.6

p.T293K

c.878C>A

3 papers

NM_000168.6

p.A286V

c.857C>T

1 paper

NM_000168.6

p.T293fs

c.877_878fs

1 paper

NM_000168.6

p.L294L

c.880C>T