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.S164N

c.491G>A

Surrounding Variants

2 papers

NM_000168.6

p.S163S

c.489T>C

1 paper

NM_000168.6

p.S163_S164del2

c.487_491del6

1 paper

NM_000168.6

p.S165I

c.494G>T

1 paper

NM_000168.6

p.S163F

c.488C>T

1 paper

NM_000168.6

p.S165S

c.495C>T

1 paper

NM_000168.6

p.S164del1

c.490_491delACT

2 papers

NM_000168.6

p.P166fs

c.496_497fs

1 paper

NM_000168.6

p.L162F

c.486A>C

2 papers

NM_000168.6

p.L162*

c.485T>G

3 papers

NM_000168.6

p.L162*

c.485T>A

1 paper

NM_000168.6

p.P166L

c.497C>T

3 papers

NM_000168.6

p.P166delFs

c.497delG