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.A1106T

c.3316G>A

Surrounding Variants

1 paper

NM_000168.6

p.G1107fs

c.3319_3320fs

1 paper

NM_000168.6

p.Q1105*

c.3313C>T

1 paper

NM_000168.6

p.N1104S

c.3311A>G

10 papers

NM_000168.6

p.Y1108*

c.3324C>G

9 papers

NM_000168.6

p.Y1108*

c.3324C>A

2 papers

NM_000168.6

p.E1109*

c.3325G>T

1 paper

NM_000168.6

p.Q1103K

c.3307C>A

1 paper

NM_000168.6

p.Q1110*

c.3328C>T

3 papers

NM_000168.6

p.N1101insFs

c.3302dupA

2 papers

NM_000168.6

p.N1101fs

c.3301_3302fs

1 paper

NM_000168.6

p.H1111Y

c.3331C>T

1 paper

NM_000168.6

p.E1109_Q1110delFs

c.3326_3330del5