Varaico: Literature-Extracted Genetic Variants

Gene:EIF6
Variant:p.G105delFs

EIF6

73 papers

RefSeq Summary

Hemidesmosomes are structures which link the basal lamina to the intermediate filament cytoskeleton. An important functional component of hemidesmosomes is the integrin beta-4 subunit (ITGB4), a prote...

Pfam Domains

eIF-6aa 4–204UCSCeIF-6 family

Gene Aliases

HGNC Name

eukaryotic translation initiation factor 6

HGNC Previous Symbol

ITGB4BP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002212.4
p.G105delFs
c.314delC
Surrounding Variants
1 paper
NM_002212.4
p.G105fs
c.313_314fs
1 paper
NM_002212.4
p.G105D
c.314G>A
1 paper
NM_002212.4
p.A103_L104del2
c.307_311del6
1 paper
NM_002212.4
p.N106D
c.316A>G
11 papers
NM_002212.4
p.N106S
c.317A>G
1 paper
NM_002212.4
p.L104F
c.312G>T
1 paper
NM_002212.4
p.L104F
c.312G>C
1 paper
NM_002212.4
p.L104L
c.312G>A
1 paper
NM_002212.4
p.L104*
c.311T>A
1 paper
NM_002212.4
p.A103delFs
c.307_308delGC
1 paper
NM_002212.4
p.T108N
c.323C>A
1 paper
NM_002212.4
p.R100insFs
c.299_300insGG
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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."