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.S84A

c.250T>G

Surrounding Variants

1 paper

NM_005269.3

p.S84P

c.250T>C

1 paper

NM_005269.3

p.I85V

c.253A>G

1 paper

NM_005269.3

p.L83V

c.247C>G

1 paper

NM_005269.3

p.A82V

c.245C>T

1 paper

NM_005269.3

p.L83_I85delFs

c.247_253del7

2 papers

NM_005269.3

p.R81Q

c.242G>A

2 papers

NM_005269.3

p.R81W

c.241C>T

1 paper

NM_005269.3

p.P87L

c.260C>T

1 paper

NM_005269.3

p.K80K

c.240G>A

1 paper

NM_005269.3

p.K80T

c.239A>C

1 paper

NM_005269.3

p.K80E

c.238A>G

3 papers

NM_005269.3

p.L88M

c.262C>A