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_001160045.2

p.V957A

c.2870T>C

Surrounding Variants

1 paper

NM_005269.3

p.V1085delFs

c.3255delG

1 paper

NM_005269.3

p.G1086fs

c.3256_3257fs

1 paper

NM_005269.3

p.P1080fs

c.3238_3239fs

1 paper

NM_005269.3

p.R1093S

c.3279A>C

1 paper

NM_005269.3

p.R1093S

c.3279A>T

2 papers

NM_005269.3

p.S1094F

c.3281C>T

1 paper

NM_005269.3

p.G1072R

c.3214G>A

1 paper

NM_005269.3

p.G1072R

c.3214G>C

1 paper

NM_001160045.2

p.S943_T946del0

c.2829_2837del9

8 papers

NM_005269.3

p.E1100Q

c.3298G>C

1 paper

NM_001160045.2

p.S943_T946del4

c.2827_2837del12

1 paper

NM_005269.3

p.R1068W

c.3202C>T