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.P767T

c.2299C>A

Surrounding Variants

1 paper

NM_005269.3

p.C766S

c.2297G>C

1 paper

NM_005269.3

p.C766S

c.2296T>A

1 paper

NM_005269.3

p.Q768P

c.2303A>C

1 paper

NM_005269.3

p.P765H

c.2294C>A

1 paper

NM_005269.3

p.Q769*

c.2305C>T

1 paper

NM_001167609.2

p.N723_P724insGGA

c.2167_2171ins9

1 paper

NM_005269.3

p.A770T

c.2308G>A

1 paper

NM_005269.3

p.P763fs

c.2287_2288fs

2 papers

NM_005269.3

p.P763S

c.2287C>T

1 paper

NM_005269.3

p.G762V

c.2285G>T

1 paper

NM_001167609.2

p.T718S

c.2153C>G

1 paper

NM_001167609.2

p.T718S

c.2152A>T