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.S1553fs

c.4657_4658fs

Surrounding Variants

2 papers

NM_000168.6

p.S1553delFs

c.4659delG

1 paper

NM_000168.6

p.S1553fs

c.4657_4658fs

1 paper

NM_000168.6

p.S1553del1

c.4657_4658delGCT

4 papers

NM_000168.6

p.I1559insFs

c.4677dupC

1 paper

NM_000168.6

p.G1560R

c.4678G>C

1 paper

NM_000168.6

p.G1560R

c.4678G>A

2 papers

NM_000168.6

p.G1560fs

c.4678_4679fs

1 paper

NM_000168.6

p.D1561fs

c.4681_4682fs

1 paper

NM_000168.6

p.D1561insFs

c.4681dupG

2 papers

NM_000168.6

p.L1545L

c.4635C>T

1 paper

NM_000168.6

p.S1544F

c.4631C>T

1 paper

NM_000168.6

p.S1544_L1545insTG

c.4630_4634ins6