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

1–12 of 582 variants

9 papers

NM_005269.3

p.R380Q

c.1139G>A

8 papers

NM_005269.3

p.G274delFs

c.821delG

8 papers

NM_005269.3

p.E1100Q

c.3298G>C

7 papers

NM_005269.3

p.R557C

c.1669C>T

7 papers

NM_005269.3

p.W780*

c.2340G>A

7 papers

NM_005269.3

p.G933D

c.2798G>A

6 papers

NM_005269.3

p.R113*

c.337C>T

6 papers

NM_005269.3

p.G274fs

c.820_821fs

6 papers

NM_005269.3

p.S378L

c.1133C>T

6 papers

NM_005269.3

p.Q644*

c.1930C>T

6 papers

NM_005269.3

p.W780*

c.2339G>A

5 papers

NM_005269.3

p.R100C

c.298C>T