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.R105R

c.315C>T

Surrounding Variants

2 papers

NM_000168.6

p.R105H

c.314G>A

1 paper

NM_000168.6

p.G106E

c.317G>A

1 paper

NM_000168.6

p.R105S

c.313C>A

1 paper

NM_000168.6

p.T107fs

c.319_320fs

1 paper

NM_000168.6

p.T107insFs

c.319_320insT

1 paper

NM_000168.6

p.G106insFs

c.318dupG

1 paper

NM_000168.6

p.Y104delFs

c.310delA

1 paper

NM_000168.6

p.Y104H

c.310T>C

2 papers

NM_000168.6

p.T107M

c.320C>T

1 paper

NM_000168.6

p.T107T

c.321G>C

1 paper

NM_000168.6

p.Y104_V108delins

c.312_322delinsAT

2 papers

NM_000168.6

p.P103L

c.308C>T