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

3 papers

NM_005269.3

p.R805Q

c.2414G>A

Surrounding Variants

1 paper

NM_005269.3

p.R805*

c.2413C>T

1 paper

NM_001167609.2

p.P763fs

c.2287_2288fs

1 paper

NM_001160045.2

p.P676S

c.2026C>T

NM_005269.3

p.P804S

c.2410C>T

NM_001167609.2

p.P763S

c.2287C>T

1 paper

NM_005269.3

p.Y800S

c.2399A>C

1 paper

NM_005269.3

p.G810A

c.2429G>C

1 paper

NM_005269.3

p.G798R

c.2392G>A

1 paper

NM_005269.3

p.G798R

c.2392G>C

1 paper

NM_005269.3

p.P816Q

c.2447C>A

1 paper

NM_005269.3

p.Q818*

c.2452C>T

1 paper

NM_005269.3

p.G792S

c.2374G>A

1 paper

NM_005269.3

p.G819A

c.2456G>C

1 paper

NM_005269.3

p.Y790F

c.2369A>T