Varaico: Literature-Extracted Genetic Variants

Gene:GLI2
Variant:p.A280T

GLI2

505 papers

RefSeq Summary

This gene encodes a protein which belongs to the C2H2-type zinc finger protein subclass of the Gli family. Members of this subclass are characterized as transcription factors which bind DNA through zi...

Pfam Domains

zf-C2H2_15aa 472–501UCSCC2H2 zinc finger
zf-C2H2aa 503–527UCSCZinc finger, C2H2 type
zf-C2H2aa 564–589UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

GLI family zinc finger 2

HGNC Alias Symbols

THP2; HPE9; THP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001374353.1
p.A280T
c.838G>A
Surrounding Variants
1 paper
NM_001374353.1
p.A280V
c.839C>T
1 paper
NM_001374353.1
p.S282Splc
c.845+10G>A
2 papers
NM_001374353.1
p.G274R
c.820G>A
2 papers
NM_001374353.1
p.G274R
c.820G>C
3 papers
NM_001374353.1
p.Y273D
c.817T>G
2 papers
NM_001374353.1
p.S272A
c.814T>G
1 paper
NM_001374353.1
p.G271S
c.811G>A
1 paper
NM_001374353.1
p.G271insFs
c.811_812ins17
1 paper
NM_001374353.1
p.G271fs
c.811_812fs
1 paper
NM_001374353.1
p.S270insFs
c.810dupC
1 paper
NM_001374353.1
p.S270insFs
c.808_809ins17
15 papers
NM_001374353.1
p.A268V
c.803C>T
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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."