Varaico: Literature-Extracted Genetic Variants

Gene:EN1
Variant:p.N247Y

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.N247Y
c.739A>T
Surrounding Variants
1 paper
NM_001426.4
p.A249S
c.745G>T
1 paper
NM_001426.4
p.T240I
c.719C>T
1 paper
NM_001426.4
p.S266L
c.797C>T
1 paper
NM_001426.4
p.G227delFs
c.680delC
1 paper
NM_001426.4
p.G227fs
c.679_680fs
1 paper
NM_001426.4
p.Q268delFs
c.803delT
1 paper
NM_001426.4
p.P269delFs
c.805delG
1 paper
NM_001426.4
p.Q267_P269delFs
c.801_807del7
1 paper
NM_001426.4
p.D222A
c.665A>C
1 paper
NM_001426.4
p.A274T
c.820G>A
2 papers
NM_001426.4
p.A218del1
c.652_653delGGC
1 paper
NM_001426.4
p.A206_A216del0
c.618_647del30
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."