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

2 papers

NM_000168.6

p.R26*

c.76C>T

Surrounding Variants

2 papers

NM_000168.6

p.R26G

c.76C>G

1 paper

NM_000168.6

p.R26R

c.76C>A

1 paper

NM_000168.6

p.T25T

c.75T>A

1 paper

NM_000168.6

p.R26insFs

c.77_78ins4

1 paper

NM_000168.6

p.R26insFs

c.77_78ins5

1 paper

NM_000168.6

p.R26ins2

c.77_78ins6

1 paper

NM_000168.6

p.R26insFs

c.77_78ins7

1 paper

NM_000168.6

p.R26insFs

c.77_78ins10

1 paper

NM_000168.6

p.T25insFs

c.74_75insT

1 paper

NM_000168.6

p.T27S

c.79A>T

1 paper

NM_000168.6

p.T25A

c.73A>G

1 paper

NM_000168.6

p.T27P

c.79A>C