Varaico: Literature-Extracted Genetic Variants

GLI3

1,956 papers

RefSeq Summary

This gene encodes a protein which belongs to the C2H2-type zinc finger proteins subclass of the Gli family. They are characterized as DNA-binding transcription factors and are mediators of Sonic hedge...

Pfam Domains

zf-C2H2_15aa 515–544UCSCC2H2 zinc finger

zf-C2H2aa 546–570UCSCZinc finger, C2H2 type

zf-C2H2aa 607–632UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

GLI family zinc finger 3

HGNC Previous Symbols

GCPS; PHS

Papers

RefSeq ID

Protein change

DNA change

1–12 of 1777 variants

27 papers

NM_000168.6

p.G727R

c.2179G>A

25 papers

NM_000168.6

p.G727R

c.2179G>C

24 papers

NM_000168.6

p.R792*

c.2374C>T

15 papers

NM_000168.6

p.E31E

c.93G>A

14 papers

NM_000168.6

p.T183A

c.547A>G

13 papers

NM_000168.6

p.R643*

c.1927C>T

13 papers

NM_000168.6

p.P998L

c.2993C>T

12 papers

NM_000168.6

p.N18I

c.53A>T

11 papers

NM_000168.6

p.P707S

c.2119C>T

10 papers

NM_000168.6

p.R290*

c.868C>T

10 papers

NM_000168.6

p.Q717*

c.2149C>T

10 papers

NM_000168.6

p.Y1108*

c.3324C>G