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

3 papers

NM_000168.6

p.P46L

c.137C>T

Surrounding Variants

1 paper

NM_000168.6

p.S45_P46delFs

c.135_136delGA

2 papers

NM_000168.6

p.G47R

c.139G>C

1 paper

NM_000168.6

p.G47R

c.139G>A

1 paper

NM_000168.6

p.G47V

c.140G>T

2 papers

NM_000168.6

p.G47E

c.140G>A

1 paper

NM_000168.6

p.G47delFs

c.139delC

1 paper

NM_000168.6

p.Q48insFs

c.143dupA

1 paper

NM_000168.6

p.E44K

c.130G>A

1 paper

NM_000168.6

p.E42delFs

c.126delC

1 paper

NM_000168.6

p.E42A

c.125A>C

1 paper

NM_000168.6

p.H51Y

c.151C>T

2 papers

NM_000168.6

p.H51L

c.152A>T