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.Y203F

c.608A>T

Surrounding Variants

1 paper

NM_000168.6

p.D202A

c.605A>C

1 paper

NM_000168.6

p.D202N

c.604G>A

1 paper

NM_000168.6

p.M201I

c.603G>C

1 paper

NM_000168.6

p.R205C

c.613C>T

1 paper

NM_000168.6

p.R205H

c.614G>A

1 paper

NM_000168.6

p.Y200delFs

c.600delG

1 paper

NM_000168.6

p.Y200*

c.600C>G

1 paper

NM_000168.6

p.Y200*

c.600C>A

1 paper

NM_000168.6

p.S206S

c.618C>T

1 paper

NM_000168.6

p.L207*

c.620T>A

1 paper

NM_000168.6

p.N198insFs

c.593dupA

1 paper

NM_000168.6

p.N198fs

c.592_593fs