Varaico: Literature-Extracted Genetic Variants

Gene:EN2
Variant:p.P142R

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
3 papers
NM_001427.4
p.P142R
c.425C>G
Surrounding Variants
1 paper
NM_001427.4
p.P144_A145insFs
c.432_433insC
1 paper
NM_001427.4
p.S148R
c.442A>C
1 paper
NM_001427.4
p.S148R
c.444C>A
1 paper
NM_001427.4
p.S148R
c.444C>G
1 paper
NM_001427.4
p.C135fs
c.403_404fs
1 paper
NM_001427.4
p.P134L
c.401C>T
1 paper
NM_001427.4
p.N132insFs
c.395dupA
1 paper
NM_001427.4
p.G154W
c.460G>T
1 paper
NM_001427.4
p.G123D
c.368G>A
1 paper
NM_001427.4
p.G123R
c.367G>C
3 papers
NM_001427.4
p.L121F
c.361C>T
1 paper
NM_001427.4
p.G112fs
c.334_335fs
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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."