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.V537A

c.1610T>C

Surrounding Variants

1 paper

NM_005269.3

p.S538F

c.1613C>T

4 papers

NM_005269.3

p.P535S

c.1603C>T

1 paper

NM_005269.3

p.G534V

c.1601G>T

1 paper

NM_005269.3

p.V533M

c.1597G>A

1 paper

NM_005269.3

p.V533L

c.1597G>C

1 paper

NM_005269.3

p.V533L

c.1597G>T

3 papers

NM_005269.3

p.R531H

c.1592G>A

1 paper

NM_005269.3

p.R531L

c.1592G>T

1 paper

NM_005269.3

p.S530_G534delFs

c.1590_1600del11

1 paper

NM_005269.3

p.G526Splc

c.1577-2A>C

1 paper

NM_005269.3

p.G526Splc

c.1577-3C>A

1 paper

NM_005269.3

p.I549M

c.1647C>G