Varaico: Literature-Extracted Genetic Variants

Gene:EN1
Variant:p.K119T

EN1

65 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 304–360UCSCHomeodomain
Engrail_1_C_sigaa 361–391UCSCEngrailed homeobox C-terminal signature domain

Gene Aliases

HGNC Name

engrailed homeobox 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001426.4
p.K119T
c.356A>C
Surrounding Variants
1 paper
NM_001426.4
p.F115_P123del9
c.343_368del27
1 paper
NM_001426.4
p.A130E
c.389C>A
1 paper
NM_001426.4
p.F106insFs
c.317dupT
1 paper
NM_001426.4
p.A96V
c.287C>T
2 papers
NM_001426.4
p.P93Q
c.278C>A
1 paper
NM_001426.4
p.T149I
c.446C>T
1 paper
NM_001426.4
p.A151S
c.451G>T
1 paper
NM_001426.4
p.P82S
c.244C>T
1 paper
NM_001426.4
p.P158T
c.472C>A
1 paper
NM_001426.4
p.A163A
c.489G>A
1 paper
NM_001426.4
p.L74L
c.222C>T
1 paper
NM_001426.4
p.L74I
c.220C>A
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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."