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.V695fs

c.2083_2084fs

Surrounding Variants

2 papers

NM_000168.6

p.V695I

c.2083G>A

2 papers

NM_000168.6

p.T694_V695Fs

c.2082_2083delinsAGAGAAGCCFs

1 paper

NM_000168.6

p.T694_V695ins3

c.2082_2083ins9

1 paper

NM_000168.6

p.V695V

c.2085C>T

1 paper

NM_000168.6

p.T694delFs

c.2080delT

1 paper

NM_000168.6

p.T694A

c.2080A>G

1 paper

NM_000168.6

p.K693R

c.2078A>G

3 papers

NM_000168.6

p.K693*

c.2077A>T

1 paper

NM_000168.6

p.A697fs

c.2089_2090fs

1 paper

NM_000168.6

p.A697delFs

c.2090delG

2 papers

NM_000168.6

p.Q691delFs

c.2072delT

1 paper

NM_000168.6

p.E698G

c.2093A>G