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

Selected Variant

5 papers

NM_000168.6

p.Q704*

c.2110C>T

Surrounding Variants

11 papers

NM_000168.6

p.P707S

c.2119C>T

3 papers

NM_000168.6

p.M701_T702Splc

c.2104-3C>A

4 papers

NM_000168.6

p.G708fs

c.2122_2123fs

1 paper

NM_000168.6

p.G709fs

c.2125_2126fs

1 paper

NM_000168.6

p.G709Fs

c.2125delinsCTFs

3 papers

NM_000168.6

p.G708_G709delFs

c.2123_2126del4

1 paper

NM_000168.6

p.Q710*

c.2128C>T

1 paper

NM_000168.6

p.C713R

c.2137T>C

1 paper

NM_000168.6

p.C713fs

c.2137_2138fs

5 papers

NM_000168.6

p.C713*

c.2139C>A

4 papers

NM_000168.6

p.C713delFs

c.2139delG

6 papers

NM_000168.6

p.Q716*

c.2146C>T