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_005269.3

p.T370_T374del5

c.1108_1121del15

Surrounding Variants

1 paper

NM_001167609.2

p.T329S

c.985A>T

2 papers

NM_005269.3

p.R372C

c.1114C>T

1 paper

NM_005269.3

p.Y373C

c.1118A>G

1 paper

NM_005269.3

p.D375_P376delFs

c.1123_1126del4

1 paper

NM_001167609.2

p.C323*

c.969T>A

1 paper

NM_005269.3

p.C364Y

c.1091G>A

2 papers

NM_005269.3

p.Y362Y

c.1086T>C

1 paper

NM_005269.3

p.P376P

c.1128T>C

1 paper

NM_005269.3

p.Y362C

c.1085A>G

1 paper

NM_005269.3

p.S378P

c.1132T>C

1 paper

NM_001167609.2

p.S337*

c.1010C>A

7 papers

NM_001167609.2

p.S337L

c.1010C>T

NM_005269.3

p.S378L

c.1133C>T