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.S1473N

c.4418G>A

Surrounding Variants

1 paper

NM_000168.6

p.G1471E

c.4412G>A

3 papers

NM_000168.6

p.N1476fs

c.4426_4427fs

3 papers

NM_000168.6

p.Q1470*

c.4408C>T

4 papers

NM_000168.6

p.N1476delFs

c.4427delT

2 papers

NM_000168.6

p.S1477fs

c.4429_4430fs

1 paper

NM_000168.6

p.L1469P

c.4406T>C

1 paper

NM_000168.6

p.S1477fs

c.4429_4430fs

1 paper

NM_000168.6

p.S1477delFs

c.4430delG

9 papers

NM_000168.6

p.E1478*

c.4432G>T

8 papers

NM_000168.6

p.S1477insFs

c.4431dupT

3 papers

NM_000168.6

p.S1477delFs

c.4430_4431delAG

2 papers

NM_000168.6

p.L1468fs

c.4402_4403fs