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

5 papers

NM_000168.6

p.S1006R

c.3016A>C

Surrounding Variants

2 papers

NM_000168.6

p.S1006fs

c.3016_3017fs

1 paper

NM_000168.6

p.S1006insFs

c.3016_3017insA

1 paper

NM_000168.6

p.A1005A

c.3015C>T

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.R1004S

c.3012G>T

1 paper

NM_000168.6

p.R1004S

c.3012G>C

1 paper

NM_000168.6

p.V1009G

c.3026T>G

3 papers

NM_000168.6

p.V1002_R1003insFs

c.3006_3007insT

4 papers

NM_000168.6

p.V1002delFs

c.3004delC

2 papers

NM_000168.6

p.V1002M

c.3004G>A

1 paper

NM_000168.6

p.R1010W

c.3028C>T