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.E17V

c.50A>T

Surrounding Variants

1 paper

NM_000168.6

p.E17insFs

c.50_51insT

1 paper

NM_000168.6

p.E17D

c.51G>T

1 paper

NM_000168.6

p.E17*

c.49G>T

1 paper

NM_000168.6

p.E17K

c.49G>A

1 paper

NM_000168.6

p.V16delFs

c.47delA

1 paper

NM_000168.6

p.V16V

c.48T>A

2 papers

NM_000168.6

p.N18Y

c.52A>T

1 paper

NM_000168.6

p.V16A

c.47T>C

12 papers

NM_000168.6

p.N18I

c.53A>T

1 paper

NM_000168.6

p.V16F

c.46G>T

1 paper

NM_000168.6

p.K15N

c.45A>C

1 paper

NM_000168.6

p.S19Y

c.56C>A