Varaico: Literature-Extracted Genetic Variants

Gene:GLI3
Variant:p.R767_P769del3

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.R767_P769del3
c.2299_2306del9
Surrounding Variants
1 paper
NM_000168.6
p.N768_P769delFs
c.2303_2306del4
1 paper
NM_000168.6
p.A770delFs
c.2308delC
1 paper
NM_000168.6
p.A770fs
c.2308_2309fs
1 paper
NM_000168.6
p.P769fs
c.2305_2306fs
2 papers
NM_000168.6
p.A770_G771delFs
c.2309_2312del4
1 paper
NM_000168.6
p.K773T
c.2318A>C
1 paper
NM_000168.6
p.R766G
c.2296A>G
1 paper
NM_000168.6
p.W774*
c.2321G>A
1 paper
NM_000168.6
p.A765A
c.2295C>T
1 paper
NM_000168.6
p.W774*
c.2322G>A
3 papers
NM_000168.6
p.Q764delFs
c.2292delT
2 papers
NM_000168.6
p.A765fs
c.2293_2294fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."