Varaico: Literature-Extracted Genetic Variants

Gene:EN2
Variant:p.E327*

EN2

47 papers

RefSeq Summary

Homeobox-containing genes are thought to have a role in controlling development. In Drosophila, the 'engrailed' (en) gene plays an important role during development in segmentation, where it is requir...

Pfam Domains

Homeodomainaa 245–301UCSCHomeodomain
Engrail_1_C_sigaa 302–332UCSCEngrailed homeobox C-terminal signature domain

Gene Aliases

HGNC Name

engrailed homeobox 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001427.4
p.E327*
c.979G>T
Surrounding Variants
1 paper
NM_001427.4
p.K329N
c.987G>C
1 paper
NM_001427.4
p.K329N
c.987G>T
1 paper
NM_001427.4
p.H321R
c.962A>G
1 paper
NM_001427.4
p.S332S
c.996C>T
1 paper
NM_001427.4
p.*334E
c.1000T>G
1 paper
NM_001427.4
p.L318*
c.953T>A
1 paper
NM_001427.4
p.A315T
c.943G>A
1 paper
NM_001427.4
p.L313H
c.938T>A
2 papers
NM_001427.4
p.V311M
c.931G>A
1 paper
NM_001427.4
p.L309L
c.925C>T
1 paper
NM_001427.4
p.T308M
c.923C>T
1 paper
NM_001427.4
p.G304delFs
c.911delG
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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."