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

4 papers

NM_000168.6

p.P169L

c.506C>T

Surrounding Variants

1 paper

NM_000168.6

p.P169S

c.505C>T

1 paper

NM_000168.6

p.Y168insFs

c.502_503insT

1 paper

NM_000168.6

p.L171L

c.511C>T

1 paper

NM_000168.6

p.T167M

c.500C>T

1 paper

NM_000168.6

p.T167A

c.499A>G

3 papers

NM_000168.6

p.P166delFs

c.497delG

2 papers

NM_000168.6

p.L171delFs

c.513delC

1 paper

NM_000168.6

p.P166L

c.497C>T

1 paper

NM_000168.6

p.P172R

c.515C>G

1 paper

NM_000168.6

p.P172H

c.515C>A

2 papers

NM_000168.6

p.P166fs

c.496_497fs

1 paper

NM_000168.6

p.P172insFs

c.515dupC