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

2 papers

NM_000168.6

p.A1170T

c.3508G>A

Surrounding Variants

1 paper

NM_000168.6

p.A1170V

c.3509C>T

1 paper

NM_000168.6

p.S1169I

c.3506G>T

2 papers

NM_000168.6

p.G1168delFs

c.3503delC

1 paper

NM_000168.6

p.G1168fs

c.3502_3503fs

1 paper

NM_000168.6

p.S1173_S1174insT

c.3517_3521ins3

1 paper

NM_000168.6

p.S1166del1

c.3496_3497delGCT

1 paper

NM_000168.6

p.S1173F

c.3518C>T

3 papers

NM_000168.6

p.S1166delFs

c.3496delT

2 papers

NM_000168.6

p.S1166fs

c.3496_3497fs

2 papers

NM_000168.6

p.K1178N

c.3534G>T

3 papers

NM_000168.6

p.K1178N

c.3534G>C

1 paper

NM_000168.6

p.K1178delFs

c.3532_3533delTT