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.Y743*

c.2229T>A

Surrounding Variants

1 paper

NM_005269.3

p.Y743*

c.2229T>G

1 paper

NM_005269.3

p.G744E

c.2231G>A

1 paper

NM_001160045.2

p.Y615H

c.1843T>C

1 paper

NM_005269.3

p.P742P

c.2226T>A

1 paper

NM_005269.3

p.A745S

c.2233G>T

2 papers

NM_005269.3

p.A745V

c.2234C>T

1 paper

NM_005269.3

p.G737V

c.2210G>T

1 paper

NM_005269.3

p.P757L

c.2270C>T

1 paper

NM_005269.3

p.T729I

c.2186C>T

1 paper

NM_005269.3

p.P758R

c.2273C>G

1 paper

NM_001167609.2

p.T718S

c.2152A>T

1 paper

NM_001167609.2

p.T718S

c.2153C>G