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.R278G

c.832A>G

Surrounding Variants

1 paper

NM_000168.6

p.R278*

c.832A>T

3 papers

NM_000168.6

p.R278fs

c.832_833fs

1 paper

NM_000168.6

p.R278K

c.833G>A

1 paper

NM_000168.6

p.T277A

c.829A>G

2 papers

NM_000168.6

p.S276N

c.827G>A

1 paper

NM_000168.6

p.S280C

c.839C>G

2 papers

NM_000168.6

p.S276Splc

c.827-2A>G

2 papers

NM_000168.6

p.S276Splc

c.827-3C>G

1 paper

NM_000168.6

p.S280S

c.840C>G

1 paper

NM_000168.6

p.P282T

c.844C>A

3 papers

NM_000168.6

p.R278_S281delFs

c.833_843del11

1 paper

NM_000168.6

p.R283fs

c.847_848fs