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.P869A

c.2605C>G

Surrounding Variants

1 paper

NM_005269.3

p.P869L

c.2606C>T

2 papers

NM_005269.3

p.P870fs

c.2608_2609fs

1 paper

NM_005269.3

p.P864T

c.2590C>A

1 paper

NM_005269.3

p.Q861*

c.2581C>T

1 paper

NM_005269.3

p.R878K

c.2633G>A

1 paper

NM_005269.3

p.P879H

c.2636C>A

1 paper

NM_005269.3

p.C880C

c.2640C>T

1 paper

NM_005269.3

p.S855F

c.2564C>T

1 paper

NM_005269.3

p.S885A

c.2653T>G

1 paper

NM_005269.3

p.S885F

c.2654C>T

1 paper

NM_001160045.2

p.Y723_P724insGGA

c.2167_2171ins9

1 paper

NM_005269.3

p.G891V

c.2672G>T