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.K87T

c.260A>C

Surrounding Variants

1 paper

NM_000168.6

p.K87R

c.260A>G

1 paper

NM_000168.6

p.K88E

c.262A>G

2 papers

NM_000168.6

p.K88R

c.263A>G

2 papers

NM_000168.6

p.L85L

c.255G>A

1 paper

NM_000168.6

p.E89K

c.265G>A

1 paper

NM_000168.6

p.L85M

c.253T>A

2 papers

NM_000168.6

p.I90_H91ins4

c.268_272ins12

1 paper

NM_000168.6

p.S84A

c.250T>G

2 papers

NM_000168.6

p.I90M

c.270C>G

1 paper

NM_000168.6

p.S84_I90Fs

c.252_270delinsGCAFs

1 paper

NM_000168.6

p.I90delFs

c.270delG

1 paper

NM_000168.6

p.R82delFs

c.244_245delCT