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.H121_Y122ins1

c.363_364insACA

Surrounding Variants

1 paper

NM_000168.6

p.P120P

c.360C>T

6 papers

NM_000168.6

p.Y122*

c.366C>G

7 papers

NM_000168.6

p.Y122*

c.366C>A

2 papers

NM_000168.6

p.H123Y

c.367C>T

1 paper

NM_000168.6

p.H123Splc

c.367+1G>A

1 paper

NM_000168.6

p.P120S

c.358C>T

1 paper

NM_000168.6

p.H123Splc

c.367+2T>C

1 paper

NM_000168.6

p.M118I

c.354G>A

1 paper

NM_000168.6

p.M118T

c.353T>C

1 paper

NM_000168.6

p.M118K

c.353T>A

1 paper

NM_000168.6

p.Y117H

c.349T>C

1 paper

NM_000168.6

p.N115S

c.344A>G