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.R1020G

c.3058C>G

Surrounding Variants

1 paper

NM_000168.6

p.P1019A

c.3055C>G

1 paper

NM_000168.6

p.P1022P

c.3066G>A

2 papers

NM_000168.6

p.R1023C

c.3067C>T

1 paper

NM_000168.6

p.R1023H

c.3068G>A

1 paper

NM_000168.6

p.G1015A

c.3044G>C

7 papers

NM_000168.6

p.E1014*

c.3040G>T

1 paper

NM_000168.6

p.L1027H

c.3080T>A

1 paper

NM_000168.6

p.G1012D

c.3035G>A

1 paper

NM_000168.6

p.S1028I

c.3083G>T

1 paper

NM_000168.6

p.T1011fs

c.3031_3032fs

2 papers

NM_000168.6

p.R1010R

c.3030G>T

1 paper

NM_000168.6

p.S1029N

c.3086G>A