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.R405W

c.1213C>T

Surrounding Variants

1 paper

NM_005269.3

p.P404T

c.1210C>A

1 paper

NM_005269.3

p.L403delFs

c.1209delG

1 paper

NM_005269.3

p.P407insFs

c.1220_1221insT

1 paper

NM_005269.3

p.D400E

c.1200T>A

1 paper

NM_005269.3

p.I409T

c.1226T>C

1 paper

NM_005269.3

p.D400E

c.1200T>G

1 paper

NM_005269.3

p.R398H

c.1193G>A

1 paper

NM_005269.3

p.E413*

c.1237G>T

1 paper

NM_001167609.2

p.R375_E376delFs

c.1123_1126del4

1 paper

NM_005269.3

p.D390G

c.1169A>G

1 paper

NM_005269.3

p.P389A

c.1165C>G

1 paper

NM_005269.3

p.G421S

c.1261G>A