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

7 papers

NM_005269.3

p.G933D

c.2798G>A

Surrounding Variants

1 paper

NM_005269.3

p.R940delFs

c.2818delC

1 paper

NM_005269.3

p.R940C

c.2818C>T

1 paper

NM_005269.3

p.R940fs

c.2818_2819fs

1 paper

NM_005269.3

p.R940H

c.2819G>A

1 paper

NM_005269.3

p.Y925N

c.2773T>A

1 paper

NM_005269.3

p.K942E

c.2824A>G

2 papers

NM_005269.3

p.S924F

c.2771C>T

1 paper

NM_005269.3

p.A943_N946del4

c.2827_2837del12

1 paper

NM_005269.3

p.A943_N946del0

c.2829_2837del9

1 paper

NM_005269.3

p.A920P

c.2758G>C

1 paper

NM_005269.3

p.Y948ins2

c.2842_2843ins6

1 paper

NM_005269.3

p.P950insFs

c.2848_2849insC