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.P224L

c.671C>T

Surrounding Variants

1 paper

NM_000168.6

p.P224S

c.670C>T

1 paper

NM_000168.6

p.P224A

c.670C>G

4 papers

NM_000168.6

p.S223N

c.668G>A

3 papers

NM_000168.6

p.T225I

c.674C>T

1 paper

NM_000168.6

p.D226Y

c.676G>T

1 paper

NM_000168.6

p.L222L

c.666G>T

1 paper

NM_000168.6

p.L222L

c.666G>A

1 paper

NM_000168.6

p.D226V

c.677A>T

2 papers

NM_000168.6

p.A227Splc

c.679+1G>T

2 papers

NM_000168.6

p.R220H

c.659G>A

3 papers

NM_000168.6

p.R220delFs

c.658delG

2 papers

NM_000168.6

p.R220fs

c.658_659fs