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.H387R

c.1160A>G

Surrounding Variants

1 paper

NM_005269.3

p.H387Q

c.1161T>G

1 paper

NM_005269.3

p.V386A

c.1157T>C

1 paper

NM_005269.3

p.P389A

c.1165C>G

1 paper

NM_005269.3

p.D390G

c.1169A>G

1 paper

NM_005269.3

p.K384E

c.1150A>G

1 paper

NM_005269.3

p.H382N

c.1144C>A

1 paper

NM_005269.3

p.R380R

c.1140A>C

9 papers

NM_005269.3

p.R380Q

c.1139G>A

1 paper

NM_005269.3

p.R380*

c.1138C>T

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

1 paper

NM_005269.3

p.S378P

c.1132T>C