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.A57S

c.169G>T

Surrounding Variants

3 papers

NM_000168.6

p.A57T

c.169G>A

1 paper

NM_000168.6

p.R55delFs

c.163_164delCT

1 paper

NM_000168.6

p.I58T

c.173T>C

1 paper

NM_000168.6

p.R55delFs

c.163delT

1 paper

NM_000168.6

p.I58I

c.174C>T

1 paper

NM_000168.6

p.T59S

c.175A>T

1 paper

NM_000168.6

p.R55G

c.163A>G

1 paper

NM_000168.6

p.R55fs

c.163_164fs

1 paper

NM_000168.6

p.T59I

c.176C>T

2 papers

NM_000168.6

p.M60K

c.179T>A

2 papers

NM_000168.6

p.Q61*

c.181C>T

1 paper

NM_000168.6

p.Q61K

c.181C>A