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.Y286_L288del3

c.856_863del9

Surrounding Variants

1 paper

NM_005269.3

p.Q285H

c.855G>C

1 paper

NM_005269.3

p.Q285H

c.855G>T

1 paper

NM_005269.3

p.A284T

c.850G>A

3 papers

NM_005269.3

p.K283*

c.847A>T

1 paper

NM_005269.3

p.V289L

c.865G>C

1 paper

NM_005269.3

p.V289L

c.865G>T

1 paper

NM_005269.3

p.V289G

c.866T>G

1 paper

NM_005269.3

p.E278G

c.833A>G

4 papers

NM_005269.3

p.R293C

c.877C>T

1 paper

NM_005269.3

p.R277K

c.830G>A

1 paper

NM_005269.3

p.R293H

c.878G>A

3 papers

NM_005269.3

p.H295Y

c.883C>T