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.M158Splc

c.474-2A>G

Surrounding Variants

1 paper

NM_000168.6

p.M158Splc

c.474-2A>C

1 paper

NM_000168.6

p.M158Splc

c.474-4C>T

1 paper

NM_000168.6

p.S160S

c.480C>T

1 paper

NM_000168.6

p.A161S

c.481G>T

2 papers

NM_000168.6

p.S160insFs

c.480dupC

1 paper

NM_000168.6

p.A161T

c.481G>A

1 paper

NM_000168.6

p.S160delFs

c.480delG

2 papers

NM_000168.6

p.A161fs

c.481_482fs

1 paper

NM_000168.6

p.A161G

c.482C>G

2 papers

NM_000168.6

p.L162*

c.485T>G

3 papers

NM_000168.6

p.L162*

c.485T>A

1 paper

NM_000168.6

p.L162F

c.486A>C