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.D751N

c.2251G>A

Surrounding Variants

2 papers

NM_000168.6

p.D751fs

c.2251_2252fs

1 paper

NM_000168.6

p.M750I

c.2250G>T

1 paper

NM_000168.6

p.M750I

c.2250G>C

1 paper

NM_000168.6

p.M750I

c.2250G>A

1 paper

NM_000168.6

p.D745_M750del0

c.2235_2249del15

1 paper

NM_000168.6

p.D751_S752insFs

c.2253_2254ins5

3 papers

NM_000168.6

p.D751delFs

c.2252delT

1 paper

NM_000168.6

p.S752P

c.2254T>C

1 paper

NM_000168.6

p.E746_D751delFs

c.2237_2253del17

1 paper

NM_000168.6

p.I749fs

c.2245_2246fs

1 paper

NM_000168.6

p.I749delFs

c.2245delT

1 paper

NM_000168.6

p.I749V

c.2245A>G