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.R325C

c.973C>T

Surrounding Variants

2 papers

NM_000168.6

p.R325H

c.974G>A

1 paper

NM_000168.6

p.S324F

c.971C>T

1 paper

NM_000168.6

p.S324A

c.970T>G

2 papers

NM_000168.6

p.S326C

c.976A>T

1 paper

NM_000168.6

p.N323N

c.969T>C

1 paper

NM_000168.6

p.N322insFs

c.965_966insC

1 paper

NM_000168.6

p.L321L

c.963C>T

1 paper

NM_000168.6

p.L321I

c.961C>A

1 paper

NM_000168.6

p.S329L

c.986C>T

1 paper

NM_000168.6

p.S328insFs

c.984dupT

1 paper

NM_000168.6

p.A330V

c.989C>T

1 paper

NM_000168.6

p.S331G

c.991A>G