Varaico: Literature-Extracted Genetic Variants

Gene:EMX2
Variant:p.F144_L145insFs

EMX2

56 papers

RefSeq Summary

This gene encodes a homeobox-containing transcription factor that is the homolog to the 'empty spiracles' gene in Drosophila. Research on this gene in humans has focused on its expression in three tis...

Pfam Domains

Homeodomainaa 155–211UCSCHomeodomain

Gene Aliases

HGNC Name

empty spiracles homeobox 2

HGNC Previous Name

empty spiracles homolog 2 (Drosophila)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004098.4
p.F144_L145insFs
c.432_433insC
Surrounding Variants
2 papers
NM_004098.4
p.E142*
c.424G>T
2 papers
NM_004098.4
p.G136V
c.407G>T
1 paper
NM_004098.4
p.G136Splc
c.407-1G>A
3 papers
NM_004098.4
p.G136Splc
c.407-4G>T
1 paper
NM_004098.4
p.K155R
c.464A>G
1 paper
NM_004098.4
p.G136Splc
c.407-10C>T
1 paper
NM_004098.4
p.R156R
c.466C>A
1 paper
NM_004098.4
p.R158*
c.472C>T
1 paper
NM_004098.4
p.R158R
c.474A>G
2 papers
NM_004098.4
p.A160_Q165del6
c.478_494del18
1 paper
NM_004098.4
p.L169insFs
c.506_507ins4
1 paper
NM_004098.4
p.E170_H171ins9
c.508_512ins27
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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."