Varaico: Literature-Extracted Genetic Variants

Gene:EIF6
Variant:p.A143S

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.A143S
c.427G>T
Surrounding Variants
1 paper
NM_002212.4
p.V142G
c.425T>G
1 paper
NM_002212.4
p.Q145*
c.433C>T
1 paper
NM_002212.4
p.Q140H
c.420G>C
1 paper
NM_002212.4
p.R139_Q140insGA
c.415_419ins6
1 paper
NM_002212.4
p.V148_G149insA
c.442_446ins3
1 paper
NM_002212.4
p.L147delFs
c.441delT
1 paper
NM_002212.4
p.Y151H
c.451T>C
1 paper
NM_002212.4
p.V135M
c.403G>A
1 paper
NM_002212.4
p.Y151S
c.452A>C
1 paper
NM_002212.4
p.K134_V135insC
c.400_404ins3
1 paper
NM_002212.4
p.C152Y
c.455G>A
1 paper
NM_002212.4
p.L133P
c.398T>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."