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.P567T

c.1699C>A

Surrounding Variants

1 paper

NM_005269.3

p.P567fs

c.1699_1700fs

1 paper

NM_005269.3

p.P566L

c.1697C>T

1 paper

NM_001160045.2

p.G440fs

c.1318_1319fs

3 papers

NM_005269.3

p.P567delFs

c.1700delC

1 paper

NM_005269.3

p.S569A

c.1705T>G

1 paper

NM_005269.3

p.S563F

c.1688C>T

1 paper

NM_005269.3

p.P571L

c.1712C>T

1 paper

NM_005269.3

p.L561M

c.1681C>A

1 paper

NM_005269.3

p.G574E

c.1721G>A

1 paper

NM_005269.3

p.R558H

c.1673G>A

1 paper

NM_005269.3

p.R558C

c.1672C>T

2 papers

NM_005269.3

p.R557G

c.1669C>G