Varaico: Literature-Extracted Genetic Variants

GLI2

505 papers

RefSeq Summary

This gene encodes a protein which belongs to the C2H2-type zinc finger protein subclass of the Gli family. Members of this subclass are characterized as transcription factors which bind DNA through zi...

Pfam Domains

zf-C2H2_15aa 472–501UCSCC2H2 zinc finger

zf-C2H2aa 503–527UCSCZinc finger, C2H2 type

zf-C2H2aa 564–589UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

GLI family zinc finger 2

HGNC Alias Symbols

THP2; HPE9; THP1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001374353.1

p.L163L

c.487C>T

Surrounding Variants

1 paper

NM_001374353.1

p.F164delFs

c.492delT

1 paper

NM_001374353.1

p.F164fs

c.490_491fs

1 paper

NM_001374353.1

p.R161G

c.481A>G

2 papers

NM_001374353.1

p.R161W

c.481A>T

1 paper

NM_001374353.1

p.G165D

c.494G>A

1 paper

NM_001374353.1

p.E160K

c.478G>A

2 papers

NM_001374353.1

p.E160delFs

c.479delA

1 paper

NM_001374353.1

p.L166L

c.498T>A

1 paper

NM_001374353.1

p.L158H

c.473T>A

1 paper

NM_001374353.1

p.A168insFs

c.502_503insT

2 papers

NM_001374353.1

p.E156insFs

c.467_468insT

2 papers

NM_001374353.1

p.Q155*

c.463C>T