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

5 papers

NM_001374353.1

p.Y176C

c.527A>G

Surrounding Variants

1 paper

NM_001374353.1

p.D175E

c.525C>G

1 paper

NM_001374353.1

p.D175V

c.524A>T

1 paper

NM_001374353.1

p.H178delFs

c.532delC

2 papers

NM_001374353.1

p.Y176_H178del0

c.526_534del9

1 paper

NM_001374353.1

p.H178_T181delins

c.533_542delinsC

2 papers

NM_001374353.1

p.S174L

c.521C>T

3 papers

NM_001374353.1

p.M180L

c.538A>C

3 papers

NM_001374353.1

p.M180L

c.538A>T

1 paper

NM_001374353.1

p.T172S

c.515C>G

2 papers

NM_001374353.1

p.T181_D192insFs

c.542_576dup35

2 papers

NM_001374353.1

p.T181A

c.541A>G

1 paper

NM_001374353.1

p.L182delFs

c.545delT