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.D112_P113insFs

c.336_337ins4

Surrounding Variants

1 paper

NM_000168.6

p.M111_D112del2

c.331_335del6

1 paper

NM_000168.6

p.D112D

c.336C>T

1 paper

NM_000168.6

p.P113P

c.339C>T

1 paper

NM_000168.6

p.P113fs

c.337_338fs

1 paper

NM_000168.6

p.D112A

c.335A>C

1 paper

NM_000168.6

p.D112N

c.334G>A

1 paper

NM_000168.6

p.R114fs

c.340_341fs

1 paper

NM_000168.6

p.R114G

c.340A>G

2 papers

NM_000168.6

p.P113delFs

c.338delG

6 papers

NM_000168.6

p.R114K

c.341G>A

1 paper

NM_000168.6

p.M111R

c.332T>G

3 papers

NM_000168.6

p.M111T

c.332T>C