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.E73A

c.218A>C

Surrounding Variants

1 paper

NM_000168.6

p.E73*

c.217G>T

1 paper

NM_000168.6

p.S72_E73insFs

c.216_217insC

1 paper

NM_000168.6

p.E74K

c.220G>A

1 paper

NM_000168.6

p.E74A

c.221A>C

1 paper

NM_000168.6

p.E74E

c.222A>G

1 paper

NM_000168.6

p.P75A

c.223C>G

1 paper

NM_000168.6

p.P75L

c.224C>T

1 paper

NM_000168.6

p.S76A

c.226T>G

1 paper

NM_000168.6

p.K70R

c.209A>G

1 paper

NM_000168.6

p.P75_S76del2

c.223_227del6

1 paper

NM_000168.6

p.S78L

c.233C>T

2 papers

NM_000168.6

p.L68F

c.202C>T