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.L1027H

c.3080T>A

Surrounding Variants

1 paper

NM_000168.6

p.S1028I

c.3083G>T

1 paper

NM_000168.6

p.S1029N

c.3086G>A

1 paper

NM_000168.6

p.C1030R

c.3088T>C

1 paper

NM_000168.6

p.C1030Y

c.3089G>A

1 paper

NM_000168.6

p.R1023H

c.3068G>A

2 papers

NM_000168.6

p.R1023C

c.3067C>T

1 paper

NM_000168.6

p.N1031fs

c.3091_3092fs

1 paper

NM_000168.6

p.P1022P

c.3066G>A

2 papers

NM_000168.6

p.P1033L

c.3098C>T

4 papers

NM_000168.6

p.P1033insFs

c.3098dupC

1 paper

NM_000168.6

p.P1033fs

c.3097_3098fs

2 papers

NM_000168.6

p.P1033delFs

c.3098delG