Varaico: Literature-Extracted Genetic Variants

Gene:EIF6
Variant:p.L116delFs

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.L116delFs
c.348delC
Surrounding Variants
1 paper
NM_002212.4
p.V117_H118ins5
c.349_353ins15
1 paper
NM_002212.4
p.L116fs
c.346_347fs
1 paper
NM_002212.4
p.H118P
c.353A>C
1 paper
NM_002212.4
p.V114A
c.341T>C
1 paper
NM_002212.4
p.Y113*
c.339C>G
1 paper
NM_002212.4
p.Y113*
c.339C>A
1 paper
NM_002212.4
p.L121*
c.362T>A
1 paper
NM_002212.4
p.L121L
c.363G>A
1 paper
NM_002212.4
p.D112E
c.336C>G
1 paper
NM_002212.4
p.D112E
c.336C>A
1 paper
NM_002212.4
p.D122V
c.365A>T
1 paper
NM_002212.4
p.D112V
c.335A>T
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