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

3 papers

NM_000168.6

p.H336insFs

c.1007_1008dupAC

Surrounding Variants

1 paper

NM_000168.6

p.L337fs

c.1009_1010fs

1 paper

NM_000168.6

p.H336R

c.1007A>G

1 paper

NM_000168.6

p.L337insFs

c.1011dupA

1 paper

NM_000168.6

p.S338A

c.1012T>G

1 paper

NM_000168.6

p.S338F

c.1013C>T

1 paper

NM_000168.6

p.S338S

c.1014T>G

2 papers

NM_000168.6

p.G335V

c.1004G>T

1 paper

NM_000168.6

p.G335A

c.1004G>C

5 papers

NM_000168.6

p.G335D

c.1004G>A

3 papers

NM_000168.6

p.G335S

c.1003G>A

1 paper

NM_000168.6

p.A339V

c.1016C>T

1 paper

NM_000168.6

p.A339E

c.1016C>A