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.S30R

c.90C>A

Surrounding Variants

1 paper

NM_000168.6

p.E31*

c.91G>T

2 papers

NM_000168.6

p.S30_E31insFs

c.90_91ins4

1 paper

NM_000168.6

p.S30C

c.88A>T

1 paper

NM_000168.6

p.E31A

c.92A>C

15 papers

NM_000168.6

p.E31E

c.93G>A

2 papers

NM_000168.6

p.V29A

c.86T>C

1 paper

NM_000168.6

p.V29E

c.86T>A

1 paper

NM_000168.6

p.K32*

c.94A>T

1 paper

NM_000168.6

p.K32E

c.94A>G

1 paper

NM_000168.6

p.K32I

c.95A>T

1 paper

NM_000168.6

p.K32T

c.95A>C

1 paper

NM_000168.6

p.D28E

c.84T>A