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.S217*

c.650C>G

Surrounding Variants

1 paper

NM_000168.6

p.S217*

c.650C>A

1 paper

NM_000168.6

p.A218T

c.652G>A

1 paper

NM_000168.6

p.A218insFs

c.652_653insG

1 paper

NM_000168.6

p.I216V

c.646A>G

1 paper

NM_000168.6

p.I216_S217insC

c.646_650ins3

1 paper

NM_000168.6

p.M215I

c.645G>C

1 paper

NM_000168.6

p.T219S

c.655A>T

1 paper

NM_000168.6

p.T219S

c.656C>G

1 paper

NM_000168.6

p.A218delFs

c.654delT

1 paper

NM_000168.6

p.T219T

c.657C>T

2 papers

NM_000168.6

p.R220fs

c.658_659fs

2 papers

NM_000168.6

p.R220H

c.659G>A