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.A765A

c.2295C>T

Surrounding Variants

1 paper

NM_000168.6

p.R766G

c.2296A>G

3 papers

NM_000168.6

p.Q764delFs

c.2292delT

2 papers

NM_000168.6

p.A765fs

c.2293_2294fs

1 paper

NM_000168.6

p.L763delFs

c.2287delA

1 paper

NM_000168.6

p.P769fs

c.2305_2306fs

1 paper

NM_000168.6

p.A762V

c.2285C>T

1 paper

NM_000168.6

p.N768_P769delFs

c.2303_2306del4

1 paper

NM_000168.6

p.R767_P769del3

c.2299_2306del9

1 paper

NM_000168.6

p.L761F

c.2281C>T

1 paper

NM_000168.6

p.A770delFs

c.2308delC

1 paper

NM_000168.6

p.A770fs

c.2308_2309fs

2 papers

NM_000168.6

p.A770_G771delFs

c.2309_2312del4