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.V97delFs

c.289_290delAC

Surrounding Variants

2 papers

NM_000168.6

p.V97delFs

c.290delA

2 papers

NM_000168.6

p.A98V

c.293C>T

1 paper

NM_000168.6

p.V97A

c.290T>C

1 paper

NM_000168.6

p.V97E

c.290T>A

5 papers

NM_000168.6

p.A98A

c.294G>A

1 paper

NM_000168.6

p.V97L

c.289G>T

1 paper

NM_000168.6

p.E99Q

c.295G>C

1 paper

NM_000168.6

p.E99fs

c.295_296fs

1 paper

NM_000168.6

p.E99G

c.296A>G

2 papers

NM_000168.6

p.E99delFs

c.295delC

1 paper

NM_000168.6

p.P95L

c.284C>T

1 paper

NM_000168.6

p.L94P

c.281T>C