Varaico: Literature-Extracted Genetic Variants

Gene:EIF6
Variant:p.V114A

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.V114A
c.341T>C
Surrounding Variants
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.D112E
c.336C>G
1 paper
NM_002212.4
p.D112E
c.336C>A
1 paper
NM_002212.4
p.D112V
c.335A>T
1 paper
NM_002212.4
p.D112A
c.335A>C
1 paper
NM_002212.4
p.L116fs
c.346_347fs
3 papers
NM_002212.4
p.D112N
c.334G>A
1 paper
NM_002212.4
p.N111K
c.333T>G
1 paper
NM_002212.4
p.N111K
c.333T>A
1 paper
NM_002212.4
p.V117_H118ins5
c.349_353ins15
1 paper
NM_002212.4
p.L116delFs
c.348delC
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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."