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.F109L

c.327T>G

Surrounding Variants

1 paper

NM_000168.6

p.F109L

c.327T>A

1 paper

NM_000168.6

p.R105_F109insFs

c.313_325dup13

3 papers

NM_000168.6

p.F109S

c.326T>C

1 paper

NM_000168.6

p.A110S

c.328G>T

1 paper

NM_000168.6

p.A110P

c.328G>C

4 papers

NM_000168.6

p.F109delFs

c.327delA

1 paper

NM_000168.6

p.F109L

c.325T>C

3 papers

NM_000168.6

p.F109fs

c.325_326fs

1 paper

NM_000168.6

p.M111L

c.331A>T

1 paper

NM_000168.6

p.M111R

c.332T>G

3 papers

NM_000168.6

p.M111T

c.332T>C

1 paper

NM_000168.6

p.Y104_V108delins

c.312_322delinsAT