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.L1297fs

c.3889_3890fs

Surrounding Variants

1 paper

NM_000168.6

p.L1297fs

c.3889_3890fs

3 papers

NM_000168.6

p.G1296_P1298delFs

c.3887_3894del8

1 paper

NM_000168.6

p.N1294delFs

c.3882delA

1 paper

NM_000168.6

p.N1294S

c.3881A>G

1 paper

NM_000168.6

p.N1302fs

c.3904_3905fs

1 paper

NM_000168.6

p.Q1292fs

c.3874_3875fs

1 paper

NM_000168.6

p.E1303Q

c.3907G>C

1 paper

NM_000168.6

p.Q1292delFs

c.3874delG

1 paper

NM_000168.6

p.S1304P

c.3910T>C

1 paper

NM_000168.6

p.G1291D

c.3872G>A

1 paper

NM_000168.6

p.N1302_S1304Fs

c.3904_3912delinsTFs

1 paper

NM_000168.6

p.G1290W

c.3868G>T