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.P66T

c.196C>A

Surrounding Variants

1 paper

NM_005269.3

p.F68_S69del2

c.202_206del6

1 paper

NM_005269.3

p.S70A

c.208T>G

4 papers

NM_005269.3

p.R72W

c.214C>T

1 paper

NM_005269.3

p.G65Splc

c.194-17G>T

1 paper

NM_005269.3

p.A74V

c.221C>T

2 papers

NM_005269.3

p.V75I

c.223G>A

1 paper

NM_005269.3

p.T78I

c.233C>T

1 paper

NM_005269.3

p.K79E

c.235A>G

1 paper

NM_005269.3

p.K79K

c.237G>A

1 paper

NM_005269.3

p.K80E

c.238A>G

1 paper

NM_005269.3

p.K80T

c.239A>C

1 paper

NM_005269.3

p.G65Splc

c.194-42A>G