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.V1009G

c.3026T>G

Surrounding Variants

1 paper

NM_000168.6

p.R1010W

c.3028C>T

2 papers

NM_000168.6

p.R1010R

c.3030G>T

1 paper

NM_000168.6

p.T1011fs

c.3031_3032fs

5 papers

NM_000168.6

p.S1006R

c.3018C>G

4 papers

NM_000168.6

p.S1006R

c.3018C>A

1 paper

NM_000168.6

p.S1006insFs

c.3016_3017insA

1 paper

NM_000168.6

p.G1012D

c.3035G>A

2 papers

NM_000168.6

p.S1006fs

c.3016_3017fs

5 papers

NM_000168.6

p.S1006R

c.3016A>C

1 paper

NM_000168.6

p.A1005A

c.3015C>T

7 papers

NM_000168.6

p.E1014*

c.3040G>T

1 paper

NM_000168.6

p.R1004S

c.3012G>T