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.T181_D192insFs

c.542_576dup35

Surrounding Variants

2 papers

NM_001374353.1

p.T181A

c.541A>G

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.L182delFs

c.545delT

1 paper

NM_001374353.1

p.L182fs

c.544_545fs

3 papers

NM_001374353.1

p.V183M

c.547G>A

1 paper

NM_001374353.1

p.H178_T181delins

c.533_542delinsC

1 paper

NM_001374353.1

p.A184V

c.551C>T

1 paper

NM_001374353.1

p.H178delFs

c.532delC

1 paper

NM_001374353.1

p.G185R

c.553G>C

2 papers

NM_001374353.1

p.G185C

c.553G>T

5 papers

NM_001374353.1

p.Y176C

c.527A>G