Varaico: Literature-Extracted Genetic Variants

Gene:EN2
Variant:p.G30fs

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.G30fs
c.88_89fs
Surrounding Variants
1 paper
NM_001427.4
p.S29fs
c.85_86fs
1 paper
NM_001427.4
p.S29_G30delFs
c.87_90del4
1 paper
NM_001427.4
p.G28delFs
c.84delC
1 paper
NM_001427.4
p.G28fs
c.82_83fs
1 paper
NM_001427.4
p.G28delFs
c.82delG
1 paper
NM_001427.4
p.G27S
c.79G>A
1 paper
NM_001427.4
p.G26fs
c.76_77fs
1 paper
NM_001427.4
p.P25delFs
c.75delC
1 paper
NM_001427.4
p.E22A
c.65A>C
1 paper
NM_001427.4
p.E22K
c.64G>A
1 paper
NM_001427.4
p.A40G
c.119C>G
1 paper
NM_001427.4
p.A40V
c.119C>T
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