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.S686A

c.2056T>G

Surrounding Variants

1 paper

NM_005269.3

p.T693T

c.2079T>G

1 paper

NM_005269.3

p.P678T

c.2032C>A

1 paper

NM_005269.3

p.A696_E705del10

c.2086_2114del30

1 paper

NM_001160045.2

p.G545A

c.1634G>C

1 paper

NM_005269.3

p.G673R

c.2017G>A

3 papers

NM_005269.3

p.R701G

c.2101A>G

1 paper

NM_005269.3

p.A670S

c.2008G>T

1 paper

NM_005269.3

p.P666T

c.1996C>A

1 paper

NM_005269.3

p.P666S

c.1996C>T

1 paper

NM_005269.3

p.V709A

c.2126T>C

1 paper

NM_005269.3

p.V714M

c.2140G>A

1 paper

NM_005269.3

p.V714A

c.2141T>C