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.Q670*

c.2008C>T

Surrounding Variants

3 papers

NM_000168.6

p.G666_R667delFs

c.1998_2001del4

2 papers

NM_000168.6

p.G671fs

c.2011_2012fs

1 paper

NM_000168.6

p.G671V

c.2012G>T

1 paper

NM_000168.6

p.P668fs

c.2002_2003fs

1 paper

NM_000168.6

p.P668P

c.2004G>A

1 paper

NM_000168.6

p.P668L

c.2003C>T

2 papers

NM_000168.6

p.G671insFs

c.2012dupG

2 papers

NM_000168.6

p.G671delFs

c.2012delC

1 paper

NM_000168.6

p.P668fs

c.2002_2003fs

1 paper

NM_000168.6

p.R667L

c.2000G>T

6 papers

NM_000168.6

p.R667*

c.1999C>T

1 paper

NM_000168.6

p.G666V

c.1997G>T