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.N722S

c.2165A>G

Surrounding Variants

1 paper

NM_000168.6

p.Y723F

c.2168A>T

3 papers

NM_000168.6

p.Y723*

c.2169T>G

2 papers

NM_000168.6

p.Y723*

c.2169T>A

1 paper

NM_000168.6

p.I720fs

c.2158_2159fs

1 paper

NM_000168.6

p.I720fs

c.2158_2159fs

1 paper

NM_000168.6

p.I720_S721insAGT

c.2158_2162ins9

3 papers

NM_000168.6

p.P719delFs

c.2157delG

2 papers

NM_000168.6

p.N725fs

c.2173_2174fs

4 papers

NM_000168.6

p.S724_N725insFs

c.2172_2173insC

1 paper

NM_000168.6

p.P719insFs

c.2156_2157insA

3 papers

NM_000168.6

p.P719S

c.2155C>T

1 paper

NM_000168.6

p.N725fs

c.2173_2174fs