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.G982R

c.2944G>C

Surrounding Variants

2 papers

NM_000168.6

p.G982R

c.2944G>A

1 paper

NM_000168.6

p.G982E

c.2945G>A

4 papers

NM_000168.6

p.D981insFs

c.2941_2942insG

1 paper

NM_000168.6

p.D981Y

c.2941G>T

4 papers

NM_000168.6

p.D981fs

c.2941_2942fs

1 paper

NM_000168.6

p.S980N

c.2939G>A

1 paper

NM_000168.6

p.C979C

c.2937C>T

2 papers

NM_000168.6

p.C979delFs

c.2935delA

2 papers

NM_000168.6

p.C979fs

c.2935_2936fs

1 paper

NM_000168.6

p.R978T

c.2933G>C

1 paper

NM_000168.6

p.G986S

c.2956G>A

1 paper

NM_000168.6

p.R977S

c.2931G>T