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.A1367fs

c.4099_4100fs

Surrounding Variants

1 paper

NM_000168.6

p.A1367insFs

c.4099_4100insG

1 paper

NM_000168.6

p.S1362_P1365del4

c.4084_4094del12

1 paper

NM_000168.6

p.H1368insFs

c.4103_4104insGC

1 paper

NM_000168.6

p.G1371S

c.4111G>A

1 paper

NM_000168.6

p.P1374fs

c.4120_4121fs

1 paper

NM_000168.6

p.G1359E

c.4076G>A

1 paper

NM_000168.6

p.Q1373_S1375Fs

c.4119_4123delinsAGCCTGAFs

4 papers

NM_000168.6

p.Q1358*

c.4072C>T

1 paper

NM_000168.6

p.S1376N

c.4127G>A

2 papers

NM_000168.6

p.Y1357Y

c.4071C>T

2 papers

NM_000168.6

p.I1356I

c.4068C>A

1 paper

NM_000168.6

p.I1354I

c.4062C>T