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

4 papers

NM_000168.6

p.L1468insFs

c.4402_4403insG

Surrounding Variants

2 papers

NM_000168.6

p.L1468fs

c.4402_4403fs

3 papers

NM_000168.6

p.L1468_L1469insG

c.4402_4406ins3

1 paper

NM_000168.6

p.L1469P

c.4406T>C

1 paper

NM_000168.6

p.S1466S

c.4398C>T

1 paper

NM_000168.6

p.S1466fs

c.4396_4397fs

3 papers

NM_000168.6

p.Q1470*

c.4408C>T

1 paper

NM_000168.6

p.A1465delFs

c.4395delG

1 paper

NM_000168.6

p.G1471E

c.4412G>A

1 paper

NM_000168.6

p.S1473N

c.4418G>A

1 paper

NM_000168.6

p.I1462T

c.4385T>C

1 paper

NM_000168.6

p.F1460F

c.4380C>T

3 papers

NM_000168.6

p.N1476fs

c.4426_4427fs