Varaico: Literature-Extracted Genetic Variants

Gene:GLI3
Variant:p.A1036V

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.A1036V
c.3107C>T
Surrounding Variants
1 paper
NM_000168.6
p.A1036P
c.3106G>C
1 paper
NM_000168.6
p.A1036A
c.3108C>T
1 paper
NM_000168.6
p.T1037M
c.3110C>T
1 paper
NM_000168.6
p.A1034E
c.3101C>A
5 papers
NM_000168.6
p.A1034fs
c.3100_3101fs
4 papers
NM_000168.6
p.P1033insFs
c.3098dupC
1 paper
NM_000168.6
p.P1033fs
c.3097_3098fs
1 paper
NM_000168.6
p.A1039T
c.3115G>A
2 papers
NM_000168.6
p.P1033delFs
c.3098delG
2 papers
NM_000168.6
p.P1033L
c.3098C>T
1 paper
NM_000168.6
p.A1039A
c.3117G>A
1 paper
NM_000168.6
p.N1031fs
c.3091_3092fs
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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."