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.S186F

c.557C>T

Surrounding Variants

2 papers

NM_000168.6

p.S186A

c.556T>G

1 paper

NM_000168.6

p.S186T

c.556T>A

3 papers

NM_000168.6

p.E187*

c.559G>T

1 paper

NM_000168.6

p.A185V

c.554C>T

1 paper

NM_000168.6

p.T183delFs

c.549delA

2 papers

NM_000168.6

p.T183fs

c.547_548fs

1 paper

NM_000168.6

p.T183delFs

c.548delG

3 papers

NM_000168.6

p.P189S

c.565C>T

1 paper

NM_000168.6

p.P189R

c.566C>G

1 paper

NM_000168.6

p.T183S

c.548C>G

4 papers

NM_000168.6

p.R180_T183delFs

c.540_547del8

3 papers

NM_000168.6

p.P189delins

c.565_567delinsTCT