Varaico: Literature-Extracted Genetic Variants

GLI1

409 papers

RefSeq Summary

This gene encodes a member of the Kruppel family of zinc finger proteins. The encoded transcription factor is activated by the sonic hedgehog signal transduction cascade and regulates stem cell prolif...

Pfam Domains

zf-C2H2_15aa 270–299UCSCC2H2 zinc finger

zf-C2H2aa 301–325UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

GLI family zinc finger 1

HGNC Previous Names

glioma-associated oncogene homolog 1 (zinc finger protein); glioma-associated oncogene family zinc finger 1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005269.3

p.G119C

c.355G>T

Surrounding Variants

1 paper

NM_005269.3

p.G118R

c.352G>A

1 paper

NM_005269.3

p.G118R

c.352G>C

1 paper

NM_005269.3

p.P117P

c.351A>T

1 paper

NM_005269.3

p.Y121C

c.362A>G

1 paper

NM_005269.3

p.Y121*

c.363C>A

1 paper

NM_005269.3

p.Y121*

c.363C>G

3 papers

NM_005269.3

p.S116A

c.346T>G

NM_001167609.2

p.S75A

c.223T>G

1 paper

NM_005269.3

p.G122D

c.365G>A

1 paper

NM_005269.3

p.G122A

c.365G>C

2 papers

NM_005269.3

p.L124_S125delFs

c.370_374del5

1 paper

NM_005269.3

p.C114R

c.340T>C

1 paper

NM_005269.3

p.L124P

c.371T>C