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_001167609.2

p.S51insFs

c.152_153insC

Surrounding Variants

1 paper

NM_005269.3

p.L93insFs

c.278_279insT

1 paper

NM_005269.3

p.Q96del1

c.286_288delCAG

2 papers

NM_005269.3

p.L88P

c.263T>C

3 papers

NM_005269.3

p.L88M

c.262C>A

1 paper

NM_005269.3

p.P87L

c.260C>T

1 paper

NM_005269.3

p.T97M

c.290C>T

1 paper

NM_005269.3

p.T97_V98insFs

c.291_292insT

1 paper

NM_005269.3

p.I85V

c.253A>G

5 papers

NM_005269.3

p.R100C

c.298C>T

1 paper

NM_005269.3

p.R100R

c.300C>A

1 paper

NM_005269.3

p.S84P

c.250T>C

1 paper

NM_005269.3

p.S84A

c.250T>G