Varaico: Literature-Extracted Genetic Variants

Gene:EIF6
Variant:p.S166delFs

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.S166delFs
c.497delG
Surrounding Variants
1 paper
NM_002212.4
p.S166fs
c.496_497fs
1 paper
NM_002212.4
p.I167N
c.500T>A
1 paper
NM_002212.4
p.T165fs
c.493_494fs
1 paper
NM_002212.4
p.T165delFs
c.494delG
1 paper
NM_002212.4
p.E168D
c.504A>T
1 paper
NM_002212.4
p.L160Q
c.479T>A
1 paper
NM_002212.4
p.G158_G159del2
c.472_476del6
1 paper
NM_002212.4
p.G158_G159del1
c.474_476delCCT
1 paper
NM_002212.4
p.S174A
c.520T>G
1 paper
NM_002212.4
p.S175A
c.523T>G
1 paper
NM_002212.4
p.Q157R
c.470A>G
1 paper
NM_002212.4
p.L176P
c.527T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."