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

1 paper

NM_000168.6

p.P178S

c.532C>T

Surrounding Variants

2 papers

NM_000168.6

p.S177A

c.529T>G

1 paper

NM_000168.6

p.H179N

c.535C>A

1 paper

NM_000168.6

p.H179R

c.536A>G

2 papers

NM_000168.6

p.H179Q

c.537C>G

2 papers

NM_000168.6

p.H179Q

c.537C>A

3 papers

NM_000168.6

p.R180Q

c.539G>A

1 paper

NM_000168.6

p.R180R

c.540G>A

1 paper

NM_000168.6

p.R175K

c.524G>A

3 papers

NM_000168.6

p.N181fs

c.541_542fs

1 paper

NM_000168.6

p.R180_N181insFs

c.540_541insG

3 papers

NM_000168.6

p.I174fs

c.520_521fs

2 papers

NM_000168.6

p.P182S

c.544C>T