Varaico: Literature-Extracted Genetic Variants

Gene:EN1
Variant:p.L27V

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.L27V
c.79C>G
Surrounding Variants
1 paper
NM_001426.4
p.G37D
c.110G>A
1 paper
NM_001426.4
p.D13_S14del1
c.39_41delGAG
1 paper
NM_001426.4
p.S39_S41del0
c.115_123del9
1 paper
NM_001426.4
p.P6L
c.17C>T
1 paper
NM_001426.4
p.Q4L
c.11A>T
1 paper
NM_001426.4
p.Q4E
c.10C>G
1 paper
NM_001426.4
p.E2insFs
c.4dupG
1 paper
NM_001426.4
p.P59L
c.176C>T
1 paper
NM_001426.4
p.A62A
c.186G>A
1 paper
NM_001426.4
p.L74I
c.220C>A
1 paper
NM_001426.4
p.L74L
c.222C>T
1 paper
NM_001426.4
p.P82S
c.244C>T
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