Varaico: Literature-Extracted Genetic Variants

Gene:EN2
Variant:p.K245T

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.K245T
c.734A>C
Surrounding Variants
1 paper
NM_001427.4
p.E243K
c.727G>A
1 paper
NM_001427.4
p.F251S
c.752T>C
1 paper
NM_001427.4
p.R233*
c.697C>T
1 paper
NM_001427.4
p.P230P
c.690C>T
1 paper
NM_001427.4
p.A261A
c.783C>T
1 paper
NM_001427.4
p.Q264L
c.791A>T
1 paper
NM_001427.4
p.Q272E
c.814C>G
1 paper
NM_001427.4
p.R273Q
c.818G>A
1 paper
NM_001427.4
p.L277L
c.829C>T
1 paper
NM_001427.4
p.A278V
c.833C>T
1 paper
NM_001427.4
p.G304delFs
c.911delG
1 paper
NM_001427.4
p.T308M
c.923C>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."