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.L741L

c.2223C>T

Surrounding Variants

1 paper

NM_000168.6

p.D740N

c.2218G>A

1 paper

NM_000168.6

p.D745N

c.2233G>A

1 paper

NM_000168.6

p.D745A

c.2234A>C

3 papers

NM_000168.6

p.S737delFs

c.2211delA

1 paper

NM_000168.6

p.D740_D745del0

c.2220_2234del15

2 papers

NM_000168.6

p.S737fs

c.2209_2210fs

1 paper

NM_000168.6

p.G736insFs

c.2207dupG

1 paper

NM_000168.6

p.G736G

c.2208T>A

3 papers

NM_000168.6

p.L730_G736delFs

c.2188_2207del20

2 papers

NM_000168.6

p.L730_G736delFs

c.2188_2206del19

1 paper

NM_000168.6

p.T747N

c.2240C>A

1 paper

NM_000168.6

p.I749V

c.2245A>G