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.Q307Q

c.921G>A

Surrounding Variants

1 paper

NM_000168.6

p.Q307L

c.920A>T

3 papers

NM_000168.6

p.Q307*

c.919C>T

3 papers

NM_000168.6

p.T308delFs

c.924delG

1 paper

NM_000168.6

p.L306_Q307insAG

c.916_920ins6

1 paper

NM_000168.6

p.M309fs

c.925_926fs

1 paper

NM_000168.6

p.D305N

c.913G>A

1 paper

NM_000168.6

p.F304S

c.911T>C

1 paper

NM_000168.6

p.R311fs

c.931_932fs

2 papers

NM_000168.6

p.R311delFs

c.931delT

1 paper

NM_000168.6

p.T312M

c.935C>T

1 paper

NM_000168.6

p.S303G

c.907A>G

1 paper

NM_000168.6

p.S313A

c.937T>G