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

1 paper

NM_000168.6

p.I20I

c.60A>T

Surrounding Variants

1 paper

NM_000168.6

p.V21M

c.61G>A

1 paper

NM_000168.6

p.V21A

c.62T>C

1 paper

NM_000168.6

p.V21V

c.63G>C

1 paper

NM_000168.6

p.S19Y

c.56C>A

1 paper

NM_000168.6

p.K22*

c.64A>T

1 paper

NM_000168.6

p.K22E

c.64A>G

1 paper

NM_000168.6

p.C23insFs

c.67_68insCC

1 paper

NM_000168.6

p.C23R

c.67T>C

12 papers

NM_000168.6

p.N18I

c.53A>T

2 papers

NM_000168.6

p.N18Y

c.52A>T

1 paper

NM_000168.6

p.E17D

c.51G>T

1 paper

NM_000168.6

p.C23_S24insFs

c.69_70insG