Varaico: Literature-Extracted Genetic Variants

Gene:EIF6

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
1–12 of 188 variants
11 papers
NM_002212.4
p.N106S
c.317A>G
7 papers
NM_002212.4
p.R96W
c.286C>T
6 papers
NM_002212.4
p.R61L
c.182G>T
4 papers
NM_002212.4
p.M1T
c.2T>C
3 papers
NM_002212.4
p.I13N
c.38T>A
3 papers
NM_002212.4
p.G69S
c.205G>A
3 papers
NM_002212.4
p.D112N
c.334G>A
3 papers
NM_002212.4
p.A194T
c.580G>A
2 papers
NM_002212.4
p.S6*
c.17C>A
2 papers
NM_002212.4
p.C15Y
c.44G>A
2 papers
NM_002212.4
p.C56R
c.166T>C
2 papers
NM_002212.4
p.I58T
c.173T>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."