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.R1018K

c.3053G>A

Surrounding Variants

1 paper

NM_005269.3

p.G1021V

c.3062G>T

1 paper

NM_005269.3

p.P1014L

c.3041C>T

1 paper

NM_005269.3

p.P1023H

c.3068C>A

1 paper

NM_005269.3

p.P1023P

c.3069T>A

5 papers

NM_005269.3

p.G1012V

c.3035G>T

1 paper

NM_005269.3

p.C1011S

c.3032G>C

1 paper

NM_005269.3

p.C1011S

c.3031T>A

1 paper

NM_005269.3

p.C1011R

c.3031T>C

1 paper

NM_005269.3

p.P1027S

c.3079C>T

1 paper

NM_005269.3

p.P1028L

c.3083C>T

1 paper

NM_005269.3

p.P1029P

c.3087C>T

1 paper

NM_005269.3

p.E1030K

c.3088G>A