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

8 papers

NM_005269.3

p.G274delFs

c.821delG

Surrounding Variants

1 paper

NM_005269.3

p.W272G

c.814T>G

2 papers

NM_005269.3

p.G274insFs

c.820_821dupGG

1 paper

NM_005269.3

p.W272fs

c.814_815fs

1 paper

NM_005269.3

p.H271P

c.812A>C

2 papers

NM_005269.3

p.W272C

c.816G>C

3 papers

NM_005269.3

p.W272C

c.816G>T

1 paper

NM_005269.3

p.G273G

c.819G>A

2 papers

NM_005269.3

p.G274S

c.820G>A

1 paper

NM_005269.3

p.G274R

c.820G>C

2 papers

NM_005269.3

p.G274fs

c.820_821fs

5 papers

NM_005269.3

p.G274C

c.820G>T

6 papers

NM_005269.3

p.G274fs

c.820_821fs