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

4 papers

NM_000168.6

p.L1158delFs

c.3474delC

Surrounding Variants

1 paper

NM_000168.6

p.P1159S

c.3475C>T

2 papers

NM_000168.6

p.I1160fs

c.3478_3479fs

1 paper

NM_000168.6

p.D1157A

c.3470A>C

1 paper

NM_000168.6

p.D1157N

c.3469G>A

5 papers

NM_000168.6

p.Q1161*

c.3481C>T

2 papers

NM_000168.6

p.S1154G

c.3460A>G

4 papers

NM_000168.6

p.E1152D

c.3456G>T

1 paper

NM_000168.6

p.E1152fs

c.3454_3455fs

1 paper

NM_000168.6

p.E1152D

c.3456G>C

1 paper

NM_000168.6

p.E1152delFs

c.3454delC

6 papers

NM_000168.6

p.E1152*

c.3454G>T

3 papers

NM_000168.6

p.L1146_P1151delFs

c.3437_3453del17