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.E916K

c.2746G>A

Surrounding Variants

1 paper

NM_005269.3

p.R915K

c.2744G>A

1 paper

NM_005269.3

p.D917N

c.2749G>A

1 paper

NM_005269.3

p.G912G

c.2736T>C

1 paper

NM_005269.3

p.A920P

c.2758G>C

2 papers

NM_005269.3

p.S924F

c.2771C>T

1 paper

NM_005269.3

p.E907*

c.2719G>T

1 paper

NM_005269.3

p.Y925N

c.2773T>A

1 paper

NM_005269.3

p.Q905E

c.2713C>G

1 paper

NM_005269.3

p.Q903L

c.2708A>T

1 paper

NM_005269.3

p.Q903_S904delFs

c.2709_2710delAT

7 papers

NM_005269.3

p.G933D

c.2798G>A

1 paper

NM_005269.3

p.R940delFs

c.2818delC