Varaico: Literature-Extracted Genetic Variants

Gene:EIF6
Variant:p.N66K

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.N66K
c.198C>A
Surrounding Variants
1 paper
NM_002212.4
p.N66K
c.198C>G
1 paper
NM_002212.4
p.N66delFs
c.197delT
2 papers
NM_002212.4
p.R67W
c.199A>T
1 paper
NM_002212.4
p.N66H
c.196A>C
1 paper
NM_002212.4
p.R67S
c.201G>T
1 paper
NM_002212.4
p.R67S
c.201G>C
1 paper
NM_002212.4
p.G65G
c.195G>A
1 paper
NM_002212.4
p.G65Splc
c.194-1G>C
1 paper
NM_002212.4
p.G65Splc
c.194-1G>A
3 papers
NM_002212.4
p.G69S
c.205G>A
2 papers
NM_002212.4
p.G69V
c.206G>T
1 paper
NM_002212.4
p.G69A
c.206G>C
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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."