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_001167609.2

p.R943_A946del0

c.2829_2837del9

Surrounding Variants

1 paper

NM_005269.3

p.R984K

c.2951G>A

2 papers

NM_005269.3

p.A985_A986del2

c.2953_2957del6

1 paper

NM_001167609.2

p.R943_A946del4

c.2827_2837del12

1 paper

NM_005269.3

p.R980K

c.2939G>A

1 paper

NM_005269.3

p.R980insFs

c.2939_2940insC

1 paper

NM_005269.3

p.A978fs

c.2932_2933fs

5 papers

NM_005269.3

p.E972Q

c.2914G>C

1 paper

NM_005269.3

p.C998_T1007del10

c.2992_3020del30

1 paper

NM_005269.3

p.S968A

c.2902T>G

1 paper

NM_005269.3

p.L1002L

c.3006C>G

1 paper

NM_005269.3

p.Y964_P965insFs

c.2892_2893ins7

1 paper

NM_005269.3

p.G1006D

c.3017G>A