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

2 papers

NM_001167609.2

p.G380D

c.1139G>A

Surrounding Variants

1 paper

NM_005269.3

p.G421S

c.1261G>A

1 paper

NM_005269.3

p.P422H

c.1265C>A

1 paper

NM_001167609.2

p.R375_E376delFs

c.1123_1126del4

2 papers

NM_005269.3

p.T430_V431delFs

c.1288_1291del4

3 papers

NM_005269.3

p.L429L

c.1285C>T

1 paper

NM_005269.3

p.E413*

c.1237G>T

2 papers

NM_005269.3

p.T430fs

c.1288_1289fs

1 paper

NM_005269.3

p.I409T

c.1226T>C

1 paper

NM_005269.3

p.P407insFs

c.1220_1221insT

1 paper

NM_005269.3

p.R405W

c.1213C>T

1 paper

NM_005269.3

p.P404T

c.1210C>A

1 paper

NM_005269.3

p.L403delFs

c.1209delG